Variant report

Variant	rs73350329
Chromosome Location	chr14:105264312-105264313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr14:105264164-105264357	HepG2	liver:	n/a	n/a
2	JUND	chr14:105264181-105264325	K562	blood:	n/a	n/a
3	NR2F2	chr14:105263831-105264351	K562	blood:	n/a	n/a
4	MXI1	chr14:105264045-105264355	HepG2	liver:	n/a	n/a
5	MAX	chr14:105263911-105264356	K562	blood:	n/a	chr14:105263953-105263963 chr14:105264132-105264142
6	TAL1	chr14:105264117-105264355	K562	blood:	n/a	chr14:105264212-105264227
7	MAZ	chr14:105263963-105264320	K562	blood:	n/a	chr14:105264132-105264142
8	YY1	chr14:105263943-105264363	K562	blood:	n/a	chr14:105264209-105264229 chr14:105264218-105264226 chr14:105264210-105264229
9	POLR2A	chr14:105263944-105264522	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:105261442..105265036-chr14:105329931..105332556,6	MCF-7	breast:
2	chr14:105264148..105266055-chr14:105338238..105340290,2	K562	blood:
3	chr14:105188315..105194275-chr14:105263600..105268559,9	MCF-7	breast:
4	chr14:105259095..105269353-chr14:105280422..105289302,26	K562	blood:
5	chr14:105151580..105154010-chr14:105263839..105266807,2	MCF-7	breast:
6	chr14:105217632..105222660-chr14:105263642..105269157,6	K562	blood:
7	chr14:105190071..105193724-chr14:105262102..105266779,4	K562	blood:

Variant related genes	Relation type
ZBTB42	TF binding region
AKT1	TF binding region
ENSG00000258701	Chromatin interaction
ENSG00000185100	Chromatin interaction
ENSG00000099814	Chromatin interaction
ENSG00000184990	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3730342	1.00[AMR][1000 genomes]
rs73350323	0.86[AFR][1000 genomes]
rs73350336	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv2830002	chr14:105078251-105348552	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv902379	chr14:105086475-105274093	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv902387	chr14:105092479-105274093	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv902388	chr14:105092479-105311249	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
9	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
10	nsv902392	chr14:105105769-105274093	Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv902394	chr14:105116232-105274093	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
12	nsv902396	chr14:105119897-105274093	Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv566052	chr14:105126354-105268228	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
14	nsv470677	chr14:105126354-105348552	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
15	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
16	nsv566053	chr14:105139894-105268228	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
17	nsv902397	chr14:105139894-105268228	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
18	nsv517038	chr14:105146579-105311249	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
19	nsv566057	chr14:105146579-105311249	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
20	nsv566059	chr14:105148655-105268228	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
21	nsv566060	chr14:105148655-105311249	Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
22	nsv902404	chr14:105148655-105311249	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
23	nsv902405	chr14:105148655-105340643	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
24	nsv542226	chr14:105153660-105265857	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
25	nsv902407	chr14:105154105-105268228	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
26	nsv902408	chr14:105154105-105274093	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
27	nsv902409	chr14:105154105-105311249	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
28	nsv566063	chr14:105154105-105312935	Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
29	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
30	nsv902411	chr14:105163532-105268228	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
31	nsv566069	chr14:105185666-105274538	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
32	nsv902412	chr14:105238701-105361934	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
33	nsv566071	chr14:105242831-105274763	Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
34	nsv566072	chr14:105245251-105274712	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
35	esv1836552	chr14:105246686-105348552	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
36	nsv902413	chr14:105246686-105366499	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
37	nsv902414	chr14:105246989-105274093	Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
38	nsv902415	chr14:105250045-105270554	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105261400-105266000	Weak transcription	Fetal Kidney	kidney
2	chr14:105262200-105264400	Enhancers	Fetal Lung	lung
3	chr14:105262400-105264400	Enhancers	HSMMtube	muscle
4	chr14:105262400-105264600	Enhancers	Lung	lung
5	chr14:105262400-105265000	Enhancers	Fetal Heart	heart
6	chr14:105262400-105266400	Enhancers	Spleen	Spleen
7	chr14:105262600-105264400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:105262600-105264600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:105262600-105264600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:105262600-105264600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:105262600-105264600	Bivalent Enhancer	Fetal Thymus	thymus
12	chr14:105262600-105264600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr14:105262600-105264600	Enhancers	Right Ventricle	heart
14	chr14:105262600-105264800	Bivalent Enhancer	Fetal Stomach	stomach
15	chr14:105262600-105265000	Enhancers	Primary hematopoietic stem cells	blood
16	chr14:105262600-105265000	Enhancers	Pancreas	Pancrea
17	chr14:105262600-105265800	Weak transcription	NH-A	brain
18	chr14:105262600-105266000	Enhancers	Fetal Muscle Leg	muscle
19	chr14:105262600-105266000	Weak transcription	Osteobl	bone
20	chr14:105262600-105266200	Enhancers	Stomach Mucosa	stomach
21	chr14:105262600-105266200	Weak transcription	HMEC	breast
22	chr14:105262600-105266200	Weak transcription	HUVEC	blood vessel
23	chr14:105262600-105266400	Enhancers	Placenta	Placenta
24	chr14:105262800-105264400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:105262800-105264400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr14:105262800-105264600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr14:105262800-105264600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:105262800-105264600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr14:105262800-105264600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:105262800-105264800	Enhancers	A549	lung
31	chr14:105262800-105265000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:105262800-105265200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:105262800-105265200	Enhancers	Fetal Intestine Large	intestine
34	chr14:105262800-105265200	Enhancers	Fetal Muscle Trunk	muscle
35	chr14:105262800-105265600	Weak transcription	Right Atrium	heart
36	chr14:105262800-105265600	Weak transcription	Hela-S3	cervix
37	chr14:105262800-105265800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:105262800-105266000	Enhancers	Adipose Nuclei	Adipose
39	chr14:105262800-105266000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:105262800-105266000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:105262800-105266200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:105262800-105266200	Weak transcription	Brain Angular Gyrus	brain
43	chr14:105262800-105266200	Weak transcription	Brain Anterior Caudate	brain
44	chr14:105262800-105266200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:105262800-105266200	Enhancers	Fetal Intestine Small	intestine
46	chr14:105262800-105266200	Weak transcription	Psoas Muscle	Psoas
47	chr14:105262800-105266200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr14:105262800-105266200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr14:105262800-105266200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr14:105262800-105266200	Weak transcription	NHDF-Ad	bronchial

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