Variant report

Variant	rs186045457
Chromosome Location	chr7:7221178-7221179
allele	C/T
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	chr7:7220925-7222989	K562	blood:	n/a	n/a
2	MYBL2	chr7:7221165-7222931	HepG2	liver:	n/a	n/a
3	JUND	chr7:7221022-7222887	K562	blood:	n/a	chr7:7222867-7222876 chr7:7221196-7221205
4	POLR2A	chr7:7221130-7222905	GM12878	blood:	n/a	n/a
5	TCF12	chr7:7221146-7223092	A549	lung:	n/a	chr7:7222909-7222916
6	REST	chr7:7221085-7222691	HL-60	blood:	n/a	chr7:7221675-7221693 chr7:7221658-7221678 chr7:7221960-7221980
7	RCOR1	chr7:7220897-7223379	K562	blood:	n/a	n/a
8	MAX	chr7:7220946-7223134	NB4	blood:	n/a	chr7:7222508-7222518
9	POLR2A	chr7:7221004-7223466	K562	blood:	n/a	n/a
10	GATA1	chr7:7221055-7222810	PBDE	blood:	n/a	chr7:7221415-7221428
11	TBP	chr7:7221018-7222871	K562	blood:	n/a	n/a
12	POLR2A	chr7:7221118-7222852	U87	brain:	n/a	n/a
13	HEY1	chr7:7220755-7223351	HepG2	liver:	n/a	chr7:7222777-7222792 chr7:7222143-7222158 chr7:7222776-7222791
14	MXI1	chr7:7220898-7225613	SK-N-SH	brain:	n/a	n/a
15	MYC	chr7:7220933-7223032	K562	blood:	n/a	chr7:7222508-7222518
16	POLR2A	chr7:7220904-7223358	GM12891	blood:	n/a	n/a
17	MYC	chr7:7220910-7223253	NB4	blood:	n/a	chr7:7222508-7222518
18	CEBPB	chr7:7221026-7221626	IMR90	lung:	n/a	chr7:7221154-7221167
19	CEBPB	chr7:7220827-7222578	K562	blood:	n/a	chr7:7221154-7221167
20	RELA	chr7:7221012-7222767	GM19099	blood:	n/a	n/a
21	POLR2A	chr7:7221008-7223135	GM12878	blood:	n/a	n/a
22	MAX	chr7:7221145-7222760	SK-N-SH	brain:	n/a	chr7:7222508-7222518
23	CEBPB	chr7:7220660-7222551	HepG2	liver:	n/a	chr7:7221154-7221167
24	POLR2A	chr7:7220995-7222937	HepG2	liver:	n/a	n/a
25	MYC	chr7:7220967-7223210	MCF10A-Er-Src	breast:	n/a	chr7:7222508-7222518
26	CEBPB	chr7:7220715-7222385	A549	lung:	n/a	chr7:7221154-7221167
27	CCNT2	chr7:7221012-7223609	K562	blood:	n/a	chr7:7223299-7223308
28	POLR2A	chr7:7221137-7222898	U87	brain:	n/a	n/a
29	MYC	chr7:7221058-7223134	K562	blood:	n/a	chr7:7222508-7222518
30	POLR2A	chr7:7220857-7222738	HepG2	liver:	n/a	n/a
31	POLR2A	chr7:7220889-7223052	HepG2	liver:	n/a	n/a
32	MYC	chr7:7220920-7222693	K562	blood:	n/a	chr7:7222508-7222518
33	POLR2A	chr7:7221163-7222862	K562	blood:	n/a	n/a
34	POLR2A	chr7:7220949-7223100	K562	blood:	n/a	n/a
35	GTF2F1	chr7:7220991-7222579	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr7:7221178-7223078	HepG2	liver:	n/a	n/a
37	TBP	chr7:7221089-7222404	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr7:7220762-7223773	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr7:7221016-7223279	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr7:7221154-7223463	Hela-S3	cervix:	n/a	n/a
41	MYC	chr7:7221045-7223098	Hela-S3	cervix:	n/a	chr7:7222508-7222518
42	POLR2A	chr7:7220701-7223154	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:7220886-7223276	PBDE	blood:	n/a	n/a
44	POLR2A	chr7:7221151-7223043	K562	blood:	n/a	n/a
45	POLR2A	chr7:7220725-7223300	HepG2	liver:	n/a	n/a
46	MYC	chr7:7221044-7222255	MCF10A-Er-Src	breast:	n/a	n/a
47	CEBPB	chr7:7220691-7222625	Hela-S3	cervix:	n/a	chr7:7221154-7221167
48	POLR2A	chr7:7220985-7223391	GM19099	blood:	n/a	n/a
49	MTA3	chr7:7221021-7223435	GM12878	blood:	n/a	n/a
50	RAD21	chr7:7221176-7223152	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:7220051..7223731-chr7:7605300..7608795,5	K562	blood:
2	chr7:7138712..7144572-chr7:7219459..7223789,7	K562	blood:
3	chr7:7220227..7222107-chr7:7381152..7382805,2	MCF-7	breast:
4	chr7:7220424..7222400-chr7:7606398..7608085,2	K562	blood:
5	chr7:7221023..7222531-chr7:7605504..7608100,2	MCF-7	breast:
6	chr7:7213763..7219997-chr7:7220116..7223880,12	MCF-7	breast:
7	chr7:7138294..7142693-chr7:7219176..7223789,9	K562	blood:

Variant related genes	Relation type
C1GALT1	TF binding region
ENSG00000244167	Chromatin interaction
ENSG00000164654	Chromatin interaction
ENSG00000272894	Chromatin interaction
ENSG00000201218	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1020929	chr7:6954959-7232920	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv464300	chr7:7040176-7368699	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv606033	chr7:7040176-7368699	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv1016369	chr7:7053923-7375567	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1023788	chr7:7053923-7407783	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv538720	chr7:7053923-7407783	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	nsv1032974	chr7:7145831-7393218	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
17	nsv508445	chr7:7190518-7261098	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	esv3372411	chr7:7220952-7223800	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7216800-7221200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:7217200-7221200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:7217800-7221200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:7220400-7221200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:7220400-7221200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr7:7220400-7221200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:7220400-7221200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:7220400-7221200	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:7220400-7221200	Enhancers	Pancreas	Pancrea
10	chr7:7220400-7221400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:7220400-7221600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr7:7220600-7221400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:7220600-7221800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr7:7220600-7224000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:7220800-7221200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr7:7220800-7221200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:7220800-7221200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:7220800-7221200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:7220800-7221200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:7220800-7221200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:7220800-7221200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:7220800-7221200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:7220800-7221200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:7220800-7221200	Enhancers	Aorta	Aorta
25	chr7:7220800-7221200	Enhancers	Colon Smooth Muscle	Colon
26	chr7:7220800-7221200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr7:7220800-7221200	Enhancers	Esophagus	oesophagus
28	chr7:7220800-7221200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr7:7220800-7221200	Enhancers	Fetal Heart	heart
30	chr7:7220800-7221200	Flanking Active TSS	Fetal Lung	lung
31	chr7:7220800-7221200	Enhancers	Fetal Muscle Leg	muscle
32	chr7:7220800-7221200	Enhancers	Placenta	Placenta
33	chr7:7220800-7221200	Enhancers	Gastric	stomach
34	chr7:7220800-7221200	Enhancers	Left Ventricle	heart
35	chr7:7220800-7221200	Enhancers	Lung	lung
36	chr7:7220800-7221200	Enhancers	Psoas Muscle	Psoas
37	chr7:7220800-7221200	Enhancers	Right Atrium	heart
38	chr7:7220800-7221200	Enhancers	Right Ventricle	heart
39	chr7:7220800-7221200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr7:7220800-7221200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr7:7220800-7221200	Enhancers	Small Intestine	intestine
42	chr7:7220800-7221200	Enhancers	Spleen	Spleen
43	chr7:7220800-7221200	Flanking Active TSS	GM12878-XiMat	blood
44	chr7:7220800-7221200	Flanking Active TSS	HepG2	liver
45	chr7:7220800-7221200	Enhancers	HUVEC	blood vessel
46	chr7:7220800-7221200	Flanking Active TSS	K562	blood
47	chr7:7220800-7221200	Flanking Active TSS	NHDF-Ad	bronchial
48	chr7:7220800-7221400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr7:7220800-7221400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr7:7220800-7221400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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