Variant report

Variant	rs60629623
Chromosome Location	chr14:105030588-105030589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:104544184..104544985-chr14:105029856..105031015,7	MCF-7	breast:
2	chr14:104597425..104598274-chr14:105030009..105030913,3	MCF-7	breast:
3	chr14:104694080..104694805-chr14:105030047..105031033,2	MCF-7	breast:
4	chr14:104603560..104604807-chr14:105030044..105030981,6	MCF-7	breast:
5	chr14:104601077..104602107-chr14:105029674..105030837,6	MCF-7	breast:
6	chr14:104544095..104545346-chr14:105030053..105031029,7	K562	blood:
7	chr14:105025262..105028783-chr14:105030319..105032347,4	MCF-7	breast:
8	chr14:104603333..104605492-chr14:105030428..105032769,2	MCF-7	breast:
9	chr14:105030117..105031530-chr14:105105903..105107265,8	MCF-7	breast:
10	chr14:104544004..104544697-chr14:105030089..105031236,3	MCF-7	breast:
11	chr14:104567251..104568942-chr14:105029276..105031338,2	MCF-7	breast:
12	chr14:105029275..105030973-chr14:105053381..105055372,2	MCF-7	breast:
13	chr14:104603508..104604499-chr14:105029618..105031234,27	MCF-7	breast:
14	chr14:104602607..104605303-chr14:105029346..105032032,3	MCF-7	breast:
15	chr14:105018505..105021042-chr14:105030444..105032502,2	MCF-7	breast:
16	chr14:104808612..104811334-chr14:105028919..105032790,3	MCF-7	breast:
17	chr14:105030217..105030977-chr14:105106374..105106938,2	K562	blood:
18	chr14:104597148..104597987-chr14:105029848..105030810,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258748	Chromatin interaction
ENSG00000066735	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12884949	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12894325	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075323	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4077377	0.81[AMR][1000 genomes]
rs4077378	0.81[AMR][1000 genomes]
rs4247039	0.88[AMR][1000 genomes]
rs4341690	0.81[ASN][1000 genomes]
rs4580093	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4983428	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4983429	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4983430	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4983431	0.82[AMR][1000 genomes]
rs4983438	0.82[AMR][1000 genomes]
rs4983609	0.84[ASN][1000 genomes]
rs4983621	0.81[AMR][1000 genomes]
rs4983627	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4983629	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58869604	0.82[ASN][1000 genomes]
rs59862477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67944534	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7140668	0.82[AMR][1000 genomes]
rs71421871	0.83[ASN][1000 genomes]
rs7157637	0.82[AMR][1000 genomes]
rs72713804	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012933	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826669	chr14:104554461-105065941	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1049810	chr14:104577600-105060539	Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	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
4	esv2761599	chr14:104789113-105067734	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1054482	chr14:104961016-105037016	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1035993	chr14:104965025-105037016	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1053751	chr14:104968968-105036524	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv542221	chr14:104968968-105036524	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1042527	chr14:104968968-105052401	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv542222	chr14:104968968-105052401	Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1051647	chr14:104983302-105153720	Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
12	nsv542223	chr14:104983302-105153720	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
13	nsv566045	chr14:104983655-105037425	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv1821679	chr14:104991128-105037557	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1816766	chr14:105007585-105126354	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv1828013	chr14:105007815-105037425	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv1831875	chr14:105007815-105037425	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv902371	chr14:105011436-105057102	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv902372	chr14:105011436-105200377	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
20	esv1831726	chr14:105011590-105037425	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv1818095	chr14:105011617-105037425	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	esv1817661	chr14:105011775-105040988	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv902373	chr14:105012858-105078153	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv470676	chr14:105023512-105100021	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv456445	chr14:105023512-105170003	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
26	nsv566047	chr14:105023512-105170003	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
27	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
28	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105024000-105031400	Enhancers	Brain Germinal Matrix	brain
2	chr14:105027000-105032600	Enhancers	Fetal Brain Male	brain
3	chr14:105029000-105030800	Enhancers	Fetal Brain Female	brain
4	chr14:105029000-105032000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:105029600-105030600	Enhancers	Fetal Lung	lung
6	chr14:105029600-105031000	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr14:105029600-105031200	Bivalent Enhancer	Fetal Stomach	stomach
8	chr14:105029600-105031400	Enhancers	Spleen	Spleen
9	chr14:105029600-105031600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr14:105029600-105032000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr14:105029800-105030600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:105029800-105030600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:105029800-105030600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:105029800-105030600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:105029800-105030600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
16	chr14:105029800-105030800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:105029800-105030800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr14:105029800-105030800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
19	chr14:105029800-105031200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:105029800-105031200	Enhancers	Adipose Nuclei	Adipose
21	chr14:105029800-105031400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:105029800-105031600	Enhancers	A549	lung
23	chr14:105029800-105032200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr14:105030000-105030600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:105030000-105030600	Enhancers	Primary B cells from cord blood	blood
26	chr14:105030000-105030800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr14:105030000-105030800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr14:105030000-105030800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:105030000-105030800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr14:105030000-105030800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr14:105030000-105030800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
32	chr14:105030000-105030800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:105030000-105030800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:105030000-105030800	Enhancers	Brain Angular Gyrus	brain
35	chr14:105030000-105030800	Enhancers	Brain Cingulate Gyrus	brain
36	chr14:105030000-105030800	Enhancers	Brain Substantia Nigra	brain
37	chr14:105030000-105030800	Bivalent Enhancer	Colonic Mucosa	Colon
38	chr14:105030000-105030800	Enhancers	Fetal Heart	heart
39	chr14:105030000-105030800	Bivalent Enhancer	Placenta	Placenta
40	chr14:105030000-105030800	Enhancers	Pancreas	Pancrea
41	chr14:105030000-105031000	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr14:105030000-105031600	Enhancers	Left Ventricle	heart
43	chr14:105030200-105030600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr14:105030200-105030600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr14:105030200-105030600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr14:105030200-105030600	Enhancers	GM12878-XiMat	blood
47	chr14:105030200-105030800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
48	chr14:105030200-105030800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:105030200-105030800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:105030200-105030800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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