Variant report

Variant	rs528662103
Chromosome Location	chr6:30852276-30852277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:115)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:115 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr6:30851614-30854616	H1-hESC	embryonic stem cell:	n/a	chr6:30854237-30854248
2	HA-E2F1	chr6:30851756-30852642	Hela-S3	cervix:	n/a	chr6:30851905-30851915
3	REST	chr6:30852198-30852426	K562	blood:	n/a	n/a
4	MYC	chr6:30852122-30852329	HepG2	liver:	n/a	n/a
5	ZBTB7A	chr6:30851220-30852908	ECC-1	luminal epithelium:	n/a	n/a
6	MYC	chr6:30851991-30852342	MCF-7	breast:	n/a	n/a
7	MXI1	chr6:30852161-30852309	Hela-S3	cervix:	n/a	n/a
8	TAF1	chr6:30851583-30852485	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr6:30851932-30852424	GM12878	blood:	n/a	n/a
10	IRF1	chr6:30852160-30852360	K562	blood:	n/a	n/a
11	TAF1	chr6:30852069-30852311	SK-N-SH	brain:	n/a	n/a
12	MYC	chr6:30851190-30852409	A549	lung:	n/a	n/a
13	MAX	chr6:30851497-30852432	MCF-7	breast:	n/a	n/a
14	UBTF	chr6:30851769-30852491	K562	blood:	n/a	n/a
15	CTCF	chr6:30852060-30852452	K562	blood:	n/a	n/a
16	MAX	chr6:30851833-30852291	K562	blood:	n/a	n/a
17	ZBTB7A	chr6:30851397-30852663	K562	blood:	n/a	n/a
18	MYC	chr6:30851671-30852365	K562	blood:	n/a	n/a
19	E2F6	chr6:30851866-30852419	K562	blood:	n/a	chr6:30851905-30851915
20	POLR2A	chr6:30850520-30854067	MCF-7	breast:	n/a	n/a
21	POLR2A	chr6:30852219-30852374	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:30851895-30852385	GM12878	blood:	n/a	n/a
23	TAF1	chr6:30851782-30852346	K562	blood:	n/a	n/a
24	MXI1	chr6:30851462-30854889	IMR90	lung:	n/a	chr6:30854399-30854414 chr6:30852833-30852842
25	POLR2A	chr6:30850369-30853408	MCF-7	breast:	n/a	n/a
26	POLR2A	chr6:30852027-30852331	HCT-116	colon:	n/a	n/a
27	MAX	chr6:30851690-30852444	ECC-1	luminal epithelium:	n/a	n/a
28	HDAC2	chr6:30851527-30852388	MCF-7	breast:	n/a	n/a
29	MXI1	chr6:30852124-30852352	GM12878	blood:	n/a	n/a
30	JUND	chr6:30852067-30852340	K562	blood:	n/a	n/a
31	POLR2A	chr6:30851519-30853108	A549	lung:	n/a	n/a
32	ZEB1	chr6:30850520-30852290	GM12878	blood:	n/a	chr6:30851704-30851711 chr6:30850657-30850664
33	FOXP2	chr6:30852067-30852403	SK-N-MC	brain:	n/a	n/a
34	EP300	chr6:30852163-30852346	K562	blood:	n/a	n/a
35	EGR1	chr6:30851672-30852815	K562	blood:	n/a	chr6:30852743-30852757 chr6:30852666-30852680 chr6:30851952-30851966 chr6:30851937-30851951 chr6:30852665-30852678
36	MXI1	chr6:30852190-30852296	HepG2	liver:	n/a	n/a
37	ZBTB7A	chr6:30851639-30852330	K562	blood:	n/a	n/a
38	POLR2A	chr6:30851691-30852477	K562	blood:	n/a	n/a
39	TAF1	chr6:30851593-30852985	ECC-1	luminal epithelium:	n/a	n/a
40	CHD2	chr6:30852076-30852365	K562	blood:	n/a	n/a
41	POLR2A	chr6:30851817-30852352	GM15510	blood:	n/a	n/a
42	MYC	chr6:30852097-30852297	K562	blood:	n/a	n/a
43	SIN3AK20	chr6:30851906-30852457	K562	blood:	n/a	n/a
44	MAZ	chr6:30852150-30852420	HepG2	liver:	n/a	n/a
45	CTCF	chr6:30852220-30852370	AG04449	skin:	n/a	n/a
46	HMGN3	chr6:30851650-30852893	K562	blood:	n/a	n/a
47	EBF1	chr6:30850301-30852317	GM12878	blood:	n/a	chr6:30850749-30850760 chr6:30850782-30850793 chr6:30850783-30850792 chr6:30850781-30850794
48	TBL1XR1	chr6:30852156-30852366	K562	blood:	n/a	n/a
49	MAZ	chr6:30851713-30853069	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr6:30852108-30852978	Raji	blood:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24536865..24538833-chr6:30851271..30852816,2	MCF-7	breast:
2	chr6:30850840..30855328-chr6:30877838..30882665,10	MCF-7	breast:
3	chr17:56735048..56737037-chr6:30851531..30853489,2	MCF-7	breast:
4	chr6:30456342..30459390-chr6:30850533..30854331,4	MCF-7	breast:
5	chr6:30582584..30584188-chr6:30850937..30852766,2	K562	blood:
6	chr6:30847750..30854588-chr6:30880214..30885422,8	K562	blood:
7	chr6:30850869..30853262-chr6:30889505..30891289,2	MCF-7	breast:
8	chr6:30748758..30751430-chr6:30850690..30852588,5	MCF-7	breast:
9	chr6:30850512..30853465-chr6:30873614..30877587,4	K562	blood:
10	chr6:30798389..30801828-chr6:30850243..30854490,5	MCF-7	breast:
11	chr6:30849765..30853673-chr6:30873635..30876591,7	MCF-7	breast:
12	chr6:30717879..30721732-chr6:30850020..30854415,6	MCF-7	breast:
13	chr6:30850549..30855941-chr6:30880357..30883667,13	MCF-7	breast:
14	chr6:30687338..30691474-chr6:30850428..30854318,11	MCF-7	breast:
15	chr6:30538401..30540196-chr6:30850753..30853451,2	MCF-7	breast:
16	chr6:30582976..30585649-chr6:30850283..30854979,5	MCF-7	breast:
17	chr12:120727928..120730827-chr6:30850671..30852390,2	MCF-7	breast:
18	chr6:30851061..30852670-chr6:30885316..30887287,2	MCF-7	breast:
19	chr6:30705171..30717521-chr6:30843972..30856100,74	MCF-7	breast:
20	chr6:30814424..30817937-chr6:30849019..30852528,4	MCF-7	breast:
21	chr6:30689083..30692064-chr6:30851539..30853940,2	K562	blood:
22	chr6:30704403..30722478-chr6:30842859..30858629,100	MCF-7	breast:
23	chr6:30685058..30687209-chr6:30852136..30853794,2	MCF-7	breast:
24	chr6:30848838..30854096-chr6:30874501..30878794,8	MCF-7	breast:
25	chr6:30581806..30587588-chr6:30850201..30854112,13	MCF-7	breast:
26	chr6:30830444..30833119-chr6:30851282..30854552,3	MCF-7	breast:
27	chr6:30780598..30803497-chr6:30842531..30855110,80	MCF-7	breast:
28	chr6:30850897..30852602-chr6:31080609..31083224,2	MCF-7	breast:
29	chr6:30849184..30852666-chr6:30852715..30854490,5	K562	blood:
30	chr6:30685105..30690458-chr6:30847596..30854595,13	MCF-7	breast:

No data

Variant related genes	Relation type
DDR1	TF binding region
ENSG00000137331	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000228791	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000228022	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000202241	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000264731	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000263608	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000237923	Chromatin interaction
ENSG00000204540	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription 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	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS 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	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv884109	chr6:30824532-30872203	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv884110	chr6:30845563-30856463	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv884111	chr6:30845563-30864279	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
9	nsv884112	chr6:30845563-30866618	Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
10	nsv601482	chr6:30846830-30854090	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	nsv884113	chr6:30846830-30857542	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv884114	chr6:30846830-30867830	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
13	nsv884115	chr6:30847710-30858991	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised 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	28 gene(s)	inside rSNPs	diseases
14	nsv884116	chr6:30848253-30864279	Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
15	nsv884117	chr6:30849124-30862423	Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
16	nsv884118	chr6:30849822-30855907	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
17	nsv884119	chr6:30849822-30856692	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
18	nsv884120	chr6:30849822-30864279	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
19	nsv884121	chr6:30850191-30856692	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
20	nsv884122	chr6:30850191-30858991	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
21	nsv884123	chr6:30850191-30865904	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
22	esv3420993	chr6:30850923-30853321	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30850000-30853000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr6:30850200-30852800	Active TSS	Gastric	stomach
3	chr6:30850400-30852600	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr6:30850400-30852800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:30850400-30853000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr6:30850400-30853200	Active TSS	Rectal Smooth Muscle	rectum
7	chr6:30850600-30852600	Active TSS	Pancreas	Pancrea
8	chr6:30850600-30852600	Weak transcription	NHDF-Ad	bronchial
9	chr6:30850600-30853000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:30850600-30853000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:30850600-30853200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:30850600-30854600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:30850800-30854200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:30850800-30854400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr6:30851000-30853000	Active TSS	Small Intestine	intestine
16	chr6:30851400-30852600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:30851400-30852600	Active TSS	Duodenum Mucosa	Duodenum
18	chr6:30851400-30852600	Enhancers	Spleen	Spleen
19	chr6:30851400-30852800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr6:30851400-30852800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr6:30851400-30852800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr6:30851400-30853000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:30851400-30853000	Active TSS	Esophagus	oesophagus
24	chr6:30851400-30853400	Active TSS	Fetal Kidney	kidney
25	chr6:30851400-30854400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:30851600-30852600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:30851600-30852800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr6:30851600-30852800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr6:30851600-30852800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:30851600-30852800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:30851600-30852800	Active TSS	Stomach Mucosa	stomach
32	chr6:30851600-30853000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr6:30851600-30853200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:30851600-30853200	Active TSS	A549	lung
35	chr6:30851800-30852400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:30851800-30852400	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr6:30851800-30852600	Active TSS	H1 Cell Line	embryonic stem cell
38	chr6:30851800-30852600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:30851800-30852600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:30851800-30852600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:30851800-30852600	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
42	chr6:30851800-30852600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr6:30851800-30852600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:30851800-30852600	Active TSS	Liver	Liver
45	chr6:30851800-30852600	Weak transcription	Brain Angular Gyrus	brain
46	chr6:30851800-30852600	Weak transcription	Fetal Brain Male	brain
47	chr6:30851800-30852600	Active TSS	Fetal Intestine Large	intestine
48	chr6:30851800-30852600	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr6:30851800-30852600	Active TSS	Right Ventricle	heart
50	chr6:30851800-30852600	Active TSS	HepG2	liver

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