Variant report

Variant	rs73835230
Chromosome Location	chr3:50328762-50328763
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:50328700-50330479	HL-60	blood:	n/a	n/a
2	SPI1	chr3:50328743-50329003	GM12878	blood:	n/a	n/a
3	SPI1	chr3:50328718-50329022	HL-60	blood:	n/a	n/a
4	WRNIP1	chr3:50328762-50329442	GM12878	blood:	n/a	n/a
5	MXI1	chr3:50328691-50330698	SK-N-SH	brain:	n/a	n/a
6	SPI1	chr3:50328703-50329106	HL-60	blood:	n/a	n/a
7	JUN	chr3:50328706-50330486	K562	blood:	n/a	chr3:50329601-50329610 chr3:50328865-50328876
8	RCOR1	chr3:50328752-50329312	K562	blood:	n/a	n/a
9	MYC	chr3:50328761-50330167	MCF10A-Er-Src	breast:	n/a	chr3:50329496-50329507 chr3:50329599-50329609
10	POLR2A	chr3:50328761-50330506	Raji	blood:	n/a	n/a
11	POLR2A	chr3:50328751-50330338	Hela-S3	cervix:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50272542..50276085-chr3:50328223..50330525,3	MCF-7	breast:
2	chr3:50263469..50266686-chr3:50327913..50330648,3	MCF-7	breast:
3	chr3:50307506..50309682-chr3:50327252..50328959,2	K562	blood:
4	chr3:50296030..50318456-chr3:50318822..50339499,66	MCF-7	breast:
5	chr3:50328544..50331099-chr3:50341314..50343587,2	MCF-7	breast:
6	chr3:50327926..50342388-chr3:50350886..50359960,36	MCF-7	breast:
7	chr3:50273529..50275833-chr3:50328515..50330856,2	K562	blood:
8	chr3:50305234..50312110-chr3:50326257..50332221,8	MCF-7	breast:
9	chr3:50324564..50342616-chr3:50350801..50362499,49	MCF-7	breast:
10	chr3:50310426..50313247-chr3:50328333..50331056,2	K562	blood:
11	chr3:50315763..50317890-chr3:50327767..50331626,3	K562	blood:
12	chr3:50263477..50265556-chr3:50328393..50331369,3	K562	blood:
13	chr3:50307506..50309682-chr3:50326891..50328959,3	K562	blood:
14	chr3:50325622..50330493-chr3:50373581..50377874,6	K562	blood:
15	chr3:50326497..50331702-chr3:50356299..50362839,8	K562	blood:
16	chr3:50327690..50333528-chr3:50363706..50369146,7	MCF-7	breast:

No data

Variant related genes	Relation type
IFRD2	TF binding region
ENSG00000114383	Chromatin interaction
ENSG00000012171	Chromatin interaction
ENSG00000114353	Chromatin interaction
ENSG00000232352	Chromatin interaction
ENSG00000114378	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000230454	Chromatin interaction
ENSG00000179564	Chromatin interaction
ENSG00000068001	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11558285	1.00[AMR][1000 genomes]
rs55833676	1.00[AMR][1000 genomes]
rs56120139	1.00[AMR][1000 genomes]
rs56737163	1.00[AMR][1000 genomes]
rs57791592	1.00[AMR][1000 genomes]
rs73832790	1.00[AMR][1000 genomes]
rs73835234	1.00[AMR][1000 genomes]
rs73835506	1.00[AMR][1000 genomes]
rs73835508	1.00[AMR][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	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv1013949	chr3:50151712-50339163	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv590250	chr3:50153356-50332697	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
6	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
7	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
8	nsv590251	chr3:50158774-50337422	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	99 gene(s)	inside rSNPs	diseases
10	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
11	nsv523560	chr3:50172397-50339163	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
12	nsv1014256	chr3:50187646-50339163	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv536565	chr3:50187646-50339163	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
14	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription 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	104 gene(s)	inside rSNPs	diseases
15	nsv590253	chr3:50196418-50337422	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
16	esv2757870	chr3:50198478-50371377	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
17	esv2759148	chr3:50198478-50371377	Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	74 gene(s)	inside rSNPs	diseases
18	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
19	nsv590254	chr3:50243510-50388607	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
20	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
21	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
22	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh 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 miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
23	nsv590257	chr3:50302830-50393640	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS 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	82 gene(s)	inside rSNPs	diseases
24	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
25	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
26	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
27	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
28	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50324400-50328800	Weak transcription	Fetal Kidney	kidney
2	chr3:50324400-50328800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:50326400-50328800	Weak transcription	Psoas Muscle	Psoas
4	chr3:50326600-50328800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:50327400-50328800	Enhancers	Fetal Heart	heart
6	chr3:50327400-50328800	Enhancers	Right Atrium	heart
7	chr3:50327600-50328800	Weak transcription	Brain Anterior Caudate	brain
8	chr3:50327600-50328800	Enhancers	Stomach Mucosa	stomach
9	chr3:50327600-50328800	Weak transcription	NHDF-Ad	bronchial
10	chr3:50327600-50329000	Weak transcription	Aorta	Aorta
11	chr3:50328000-50328800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:50328000-50328800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:50328000-50328800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr3:50328000-50328800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:50328000-50328800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:50328000-50328800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:50328000-50328800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr3:50328000-50328800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:50328000-50328800	Enhancers	Brain Substantia Nigra	brain
20	chr3:50328000-50328800	Weak transcription	Esophagus	oesophagus
21	chr3:50328000-50328800	Enhancers	Fetal Intestine Large	intestine
22	chr3:50328000-50328800	Enhancers	Fetal Thymus	thymus
23	chr3:50328000-50328800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr3:50328000-50328800	Weak transcription	Thymus	Thymus
25	chr3:50328000-50328800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:50328200-50328800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:50328200-50328800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:50328200-50328800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:50328200-50328800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:50328200-50328800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr3:50328200-50328800	Enhancers	Primary B cells from cord blood	blood
32	chr3:50328200-50328800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr3:50328200-50328800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr3:50328200-50328800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr3:50328200-50328800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr3:50328200-50328800	Weak transcription	Gastric	stomach
37	chr3:50328200-50328800	Weak transcription	Ovary	ovary
38	chr3:50328200-50328800	Active TSS	Rectal Smooth Muscle	rectum
39	chr3:50328200-50328800	Weak transcription	HSMMtube	muscle
40	chr3:50328200-50329000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:50328200-50329000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:50328200-50329200	Enhancers	Spleen	Spleen
43	chr3:50328200-50329400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr3:50328200-50330200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:50328400-50328800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:50328400-50328800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:50328400-50328800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr3:50328400-50328800	Enhancers	Brain Hippocampus Middle	brain
49	chr3:50328400-50328800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr3:50328400-50328800	Enhancers	Left Ventricle	heart

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