Variant report

Variant	rs587652030
Chromosome Location	chr3:50305579-50305580
allele	A/G
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:15)
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	chr3:50305528-50305915	K562	blood:	n/a	n/a
2	MAZ	chr3:50304153-50308532	IMR90	lung:	n/a	chr3:50306954-50306964
3	POLR2A	chr3:50305179-50309393	HepG2	liver:	n/a	n/a
4	ZBTB7A	chr3:50304305-50305643	ECC-1	luminal epithelium:	n/a	n/a
5	SMARCB1	chr3:50304384-50305757	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr3:50305532-50313853	HepG2	liver:	n/a	n/a
7	TFAP2C	chr3:50305566-50307587	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr3:50305474-50306545	A549	lung:	n/a	n/a
9	MAX	chr3:50305555-50307825	Hela-S3	cervix:	n/a	chr3:50307440-50307450 chr3:50306954-50306964
10	POLR2A	chr3:50301468-50308558	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr3:50305538-50305620	MCF-7	breast:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50281584..50285263-chr3:50304924..50308731,5	MCF-7	breast:
2	chr3:50303839..50307896-chr3:50307992..50312285,6	K562	blood:
3	chr3:50283679..50285186-chr3:50302966..50305598,2	MCF-7	breast:
4	chr3:50305234..50312110-chr3:50326257..50332221,8	MCF-7	breast:
5	chr3:50242278..50244597-chr3:50304376..50306670,2	K562	blood:
6	chr3:50296030..50318456-chr3:50318822..50339499,66	MCF-7	breast:
7	chr3:50263329..50265945-chr3:50304560..50306258,2	MCF-7	breast:
8	chr3:50303783..50306378-chr3:50387690..50389658,2	MCF-7	breast:
9	chr3:50220929..50223103-chr3:50305394..50307626,2	K562	blood:
10	chr3:50300460..50314689-chr3:50349154..50363682,34	MCF-7	breast:
11	chr3:50303166..50306016-chr3:50377616..50380162,2	MCF-7	breast:
12	chr3:50263019..50266611-chr3:50304390..50308892,11	MCF-7	breast:
13	chr3:50266814..50271565-chr3:50304984..50308896,4	MCF-7	breast:
14	chr3:50271706..50275857-chr3:50303511..50313889,17	MCF-7	breast:
15	chr3:50304620..50307086-chr3:50310040..50312285,3	K562	blood:

No data

Variant related genes	Relation type
SEMA3B	TF binding region
SEMA3B-AS1	TF binding region
ENSG00000243477	Chromatin interaction
ENSG00000188338	Chromatin interaction
ENSG00000214706	Chromatin interaction
ENSG00000068001	Chromatin interaction
ENSG00000012171	Chromatin interaction
ENSG00000235058	Chromatin interaction
ENSG00000114395	Chromatin interaction
ENSG00000114388	Chromatin interaction
ENSG00000186792	Chromatin interaction
ENSG00000004838	Chromatin interaction
ENSG00000114378	Chromatin interaction
ENSG00000114353	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000272104	Chromatin interaction
ENSG00000001617	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001775	chr3:50129479-50311666	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv460529	chr3:50178011-50324672	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv460530	chr3:50178011-50324672	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS 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	40 gene(s)	inside rSNPs	diseases
15	nsv590252	chr3:50178011-50324672	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
16	nsv1002916	chr3:50187646-50311666	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
17	nsv536564	chr3:50187646-50311666	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	esv3404854	chr3:50305373-50307921	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50299800-50306200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:50300400-50306600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:50300600-50307800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:50300800-50306600	Flanking Active TSS	Hela-S3	cervix
5	chr3:50300800-50307400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:50300800-50307600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:50301000-50307200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:50301000-50307600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:50301000-50308200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:50301200-50307600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:50301600-50305800	Enhancers	Fetal Lung	lung
12	chr3:50301600-50307600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:50302200-50306000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:50302400-50307800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr3:50302600-50309600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:50303600-50307800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr3:50303600-50307800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr3:50303800-50305600	Flanking Active TSS	Placenta	Placenta
19	chr3:50303800-50305800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr3:50303800-50306400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr3:50304000-50305800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:50304000-50306400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr3:50304000-50308000	Flanking Active TSS	Colonic Mucosa	Colon
24	chr3:50304000-50308000	Flanking Active TSS	NHLF	lung
25	chr3:50304000-50308600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:50304200-50305600	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr3:50304200-50305600	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr3:50304200-50307800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:50304400-50305600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
30	chr3:50304400-50305600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
31	chr3:50304400-50305600	Flanking Active TSS	Stomach Mucosa	stomach
32	chr3:50304400-50305800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:50304400-50305800	Enhancers	Fetal Brain Male	brain
34	chr3:50304400-50305800	Active TSS	Fetal Kidney	kidney
35	chr3:50304400-50306000	Enhancers	Liver	Liver
36	chr3:50304400-50306400	Enhancers	A549	lung
37	chr3:50304400-50306600	Flanking Active TSS	HepG2	liver
38	chr3:50304400-50307000	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr3:50304400-50307600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:50304400-50307600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr3:50304600-50305600	Bivalent Enhancer	Fetal Thymus	thymus
42	chr3:50304600-50305800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:50304600-50305800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr3:50304600-50305800	Active TSS	Rectal Smooth Muscle	rectum
45	chr3:50304600-50306000	Active TSS	Right Atrium	heart
46	chr3:50304600-50306600	Enhancers	HMEC	breast
47	chr3:50304600-50307000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:50304600-50307600	Enhancers	Spleen	Spleen
49	chr3:50304800-50305600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr3:50304800-50305600	Active TSS	Brain Anterior Caudate	brain

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