Variant report

Variant	rs34503337
Chromosome Location	chr6:1610300-1610301
allele	A/G
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	POLR2A	chr6:1609497-1610801	NB4	blood:	n/a	n/a
2	TCF12	chr6:1609957-1610463	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr6:1609409-1611159	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr6:1609809-1610317	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr6:1609965-1610385	PANC-1	pancreas:	n/a	n/a
6	TBP	chr6:1609921-1610340	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr6:1609604-1610625	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr6:1609891-1610568	GM12878	blood:	n/a	chr6:1610534-1610543 chr6:1609996-1610008
9	POLR2A	chr6:1609911-1610378	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr6:1609807-1610401	A549	lung:	n/a	n/a
11	SIN3AK20	chr6:1610072-1610319	PFSK-1	brain:	n/a	n/a
12	MAX	chr6:1609478-1610437	NB4	blood:	n/a	n/a
13	POLR2A	chr6:1610224-1610525	H1-neurons	neurons:	n/a	n/a
14	TAF1	chr6:1609903-1610410	MCF-7	breast:	n/a	n/a
15	POLR2A	chr6:1609964-1610448	U87	brain:	n/a	n/a
16	MAX	chr6:1609290-1611152	A549	lung:	n/a	n/a
17	CHD2	chr6:1609365-1610382	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr6:1609729-1610430	A549	lung:	n/a	n/a
19	MAX	chr6:1609296-1610500	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr6:1610262-1610348	A549	lung:	n/a	n/a
21	POLR2A	chr6:1609588-1611191	Hela-S3	cervix:	n/a	n/a
22	MAX	chr6:1609395-1610504	HepG2	liver:	n/a	n/a
23	HCFC1	chr6:1609379-1612032	Hela-S3	cervix:	n/a	n/a
24	MXI1	chr6:1609163-1613690	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr6:1609958-1610454	U87	brain:	n/a	n/a
26	SMARCB1	chr6:1609385-1612360	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr6:1609923-1610412	SK-N-SH	brain:	n/a	n/a
28	MYC	chr6:1609444-1610476	NB4	blood:	n/a	n/a
29	MXI1	chr6:1609378-1612962	IMR90	lung:	n/a	n/a
30	HA-E2F1	chr6:1609671-1610863	Hela-S3	cervix:	n/a	chr6:1609878-1609888 chr6:1610068-1610078
31	POLR2A	chr6:1609755-1610562	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr6:1609820-1610530	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr6:1609498-1611132	MCF10A-Er-Src	breast:	n/a	n/a
34	JUND	chr6:1609942-1610318	A549	lung:	n/a	chr6:1610081-1610090 chr6:1610060-1610069
35	ELK1	chr6:1609985-1610351	Hela-S3	cervix:	n/a	n/a
36	RCOR1	chr6:1609953-1610336	Hela-S3	cervix:	n/a	n/a
37	FOXP2	chr6:1609626-1610634	PFSK-1	brain:	n/a	n/a
38	RFX5	chr6:1609636-1610356	Hela-S3	cervix:	n/a	chr6:1610061-1610070
39	POLR2A	chr6:1609811-1610402	HUVEC	blood vessel:	n/a	n/a
40	YY1	chr6:1609912-1610317	HCT-116	colon:	n/a	chr6:1610068-1610082 chr6:1610187-1610198 chr6:1610071-1610085 chr6:1610067-1610081
41	MAX	chr6:1609310-1611131	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr6:1609612-1610572	A549	lung:	n/a	n/a
43	MAX	chr6:1609398-1610447	A549	lung:	n/a	n/a
44	MAZ	chr6:1610117-1610380	HepG2	liver:	n/a	n/a
45	POLR2A	chr6:1606446-1612572	HEK293	kidney:	n/a	n/a
46	ZNF143	chr6:1609770-1610301	Hela-S3	cervix:	n/a	chr6:1609871-1609881
47	CEBPB	chr6:1609988-1610319	Hela-S3	cervix:	n/a	n/a
48	TAF1	chr6:1609840-1610339	Hela-S3	cervix:	n/a	n/a
49	YY1	chr6:1609940-1610497	HepG2	liver:	n/a	chr6:1610068-1610082 chr6:1610187-1610198 chr6:1610071-1610085 chr6:1610426-1610440 chr6:1610067-1610081 chr6:1610470-1610484
50	POLR2A	chr6:1608757-1611681	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:1608353..1611335-chr6:2245492..2248463,2	MCF-7	breast:
2	chr1:161101985..161102784-chr6:1609809..1610325,2	Hela-S3	cervix:
3	chr14:100658739..100659418-chr6:1609951..1610630,2	Hela-S3	cervix:
4	chr19:39900304..39901200-chr6:1610096..1610828,2	Hela-S3	cervix:
5	chr6:1609895..1610404-chr7:148822727..148823549,2	HCT-116	colon:
6	chr6:1608640..1610320-chr6:2764921..2767231,2	MCF-7	breast:
7	chr6:1608029..1610545-chr6:1915416..1919377,4	MCF-7	breast:
8	chr19:572126..572770-chr6:1609596..1610352,2	NB4	blood:
9	chr6:1610083..1610592-chr8:77593010..77593516,2	HCT-116	colon:
10	chr17:73775605..73776125-chr6:1609591..1610356,2	Hela-S3	cervix:
11	chr6:1609667..1610499-chr6:2634221..2635016,2	Hela-S3	cervix:
12	chr11:67887768..67889272-chr6:1609533..1611427,2	MCF-7	breast:
13	chr6:1609450..1612431-chr6:1929248..1931252,2	MCF-7	breast:
14	chr17:41438452..41439029-chr6:1609999..1610656,2	Hela-S3	cervix:
15	chr12:52445575..52446281-chr6:1609760..1610319,2	Hela-S3	cervix:
16	chr6:1607774..1610426-chr6:2098410..2101344,2	MCF-7	breast:

Variant related genes	Relation type
FOXC1	TF binding region
ENSG00000110721	Chromatin interaction
ENSG00000267751	Chromatin interaction
ENSG00000091656	Chromatin interaction
ENSG00000164385	Chromatin interaction
ENSG00000250903	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000240877	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000112699	Chromatin interaction
ENSG00000204947	Chromatin interaction
ENSG00000124535	Chromatin interaction
ENSG00000197024	Chromatin interaction
ENSG00000172270	Chromatin interaction
ENSG00000266559	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024111	chr6:1231850-1730146	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1021924	chr6:1254891-1736995	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv538082	chr6:1254891-1736995	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv917248	chr6:1365437-1627813	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1034039	chr6:1427061-1691837	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv538088	chr6:1427061-1691837	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv1027393	chr6:1446300-1692019	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv538089	chr6:1446300-1692019	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv1016859	chr6:1460020-1645819	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv883376	chr6:1535043-1635082	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv491607	chr6:1580681-1951526	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv1016594	chr6:1590030-1702529	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv823394	chr6:1590091-1629146	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
15	nsv883378	chr6:1593851-1623990	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
16	nsv883379	chr6:1593851-1628902	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
17	nsv823395	chr6:1595031-1629521	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
18	nsv883380	chr6:1595216-1621404	Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
19	nsv883381	chr6:1595216-1628902	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
20	nsv823396	chr6:1597359-1629106	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
21	nsv883382	chr6:1598942-1620037	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
22	nsv823397	chr6:1603867-1622264	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
23	nsv530888	chr6:1605768-1739933	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
24	esv3409241	chr6:1608853-1616151	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
25	esv3436874	chr6:1609353-1613751	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
26	esv3374071	chr6:1609378-1611926	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
27	esv3404453	chr6:1609978-1612826	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1604200-1610800	Active TSS	Aorta	Aorta
2	chr6:1604400-1610800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:1605000-1610800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr6:1605600-1620800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:1607000-1612600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:1607800-1611200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:1607800-1611200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
8	chr6:1607800-1612000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
9	chr6:1608400-1612000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
10	chr6:1608600-1610600	Bivalent/Poised TSS	Thymus	Thymus
11	chr6:1608600-1611000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr6:1608600-1611200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr6:1608600-1611200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
14	chr6:1609000-1612000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:1609000-1612000	Active TSS	Ovary	ovary
16	chr6:1609000-1612200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:1609000-1615200	Active TSS	Right Atrium	heart
18	chr6:1609000-1615400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr6:1609200-1610800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:1609200-1611400	Bivalent/Poised TSS	Psoas Muscle	Psoas
21	chr6:1609200-1612200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:1609200-1612400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:1609200-1612800	Active TSS	HSMM	muscle
24	chr6:1609200-1614400	Active TSS	A549	lung
25	chr6:1609400-1611200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr6:1609400-1612200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:1609400-1612400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr6:1609400-1612600	Active TSS	HSMMtube	muscle
29	chr6:1609400-1616000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:1609600-1610600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
31	chr6:1609600-1610800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:1609600-1610800	Active TSS	Left Ventricle	heart
33	chr6:1609600-1611200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:1609600-1611200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr6:1609600-1611200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:1609600-1612200	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr6:1609600-1612400	Active TSS	NHEK	skin
38	chr6:1609600-1614400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:1609600-1614800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:1609600-1616000	Active TSS	Hela-S3	cervix
41	chr6:1609800-1610400	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
42	chr6:1609800-1610400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:1609800-1610600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:1609800-1610600	Active TSS	Primary B cells from cord blood	blood
45	chr6:1609800-1610600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr6:1609800-1610600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:1609800-1610600	Active TSS	Fetal Kidney	kidney
48	chr6:1609800-1610600	Active TSS	Lung	lung
49	chr6:1609800-1610800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr6:1609800-1610800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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