Variant report

Variant	rs574576997
Chromosome Location	chr7:8007711-8007712
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	MYC	chr7:8007511-8009987	K562	blood:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
2	MYC	chr7:8007634-8008866	MCF10A-Er-Src	breast:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
3	MTA3	chr7:8006906-8010045	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:8007164-8012302	GM12878	blood:	n/a	n/a
5	STAT5A	chr7:8007563-8008160	GM12878	blood:	n/a	n/a
6	CTCF	chr7:8007620-8007770	BJ	skin:	n/a	n/a
7	SMC3	chr7:8007509-8008245	GM12878	blood:	n/a	n/a
8	CTCF	chr7:8007640-8007790	HMF	breast:	n/a	n/a
9	TBL1XR1	chr7:8007520-8009091	GM12878	blood:	n/a	n/a
10	CTCF	chr7:8007600-8007750	NHDF-neo	bronchial:	n/a	n/a
11	MXI1	chr7:8006814-8014285	SK-N-SH	brain:	n/a	n/a
12	BRCA1	chr7:8007704-8008821	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:8007125-8009991	GM12892	blood:	n/a	n/a
14	CTCF	chr7:8007620-8007770	HCPEpiC	choroid plexus:	n/a	n/a
15	POLR2A	chr7:8007054-8009953	GM19193	blood:	n/a	n/a
16	POLR2A	chr7:8006896-8012163	GM12891	blood:	n/a	n/a
17	CHD1	chr7:8007292-8013431	GM12878	blood:	n/a	chr7:8008401-8008411 chr7:8008924-8008934 chr7:8008931-8008941 chr7:8008787-8008797
18	POLR2A	chr7:8007359-8010167	GM18951	blood:	n/a	n/a
19	CTCF	chr7:8007640-8007790	HMEC	breast:	n/a	n/a
20	POLR2A	chr7:8007702-8009364	PFSK-1	brain:	n/a	n/a
21	CTCF	chr7:8007700-8007850	HPAF	blood vessel:	n/a	n/a
22	ATF2	chr7:8007527-8008392	GM12878	blood:	n/a	n/a
23	PML	chr7:8007235-8010419	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:8007615-8010029	GM12891	blood:	n/a	n/a
25	POLR2A	chr7:8006815-8012265	GM12892	blood:	n/a	n/a
26	RELA	chr7:8007403-8009052	GM10847	blood:	n/a	n/a
27	POLR2A	chr7:8007335-8010010	GM15510	blood:	n/a	n/a
28	MYC	chr7:8007691-8007937	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr7:8007254-8010829	GM12892	blood:	n/a	n/a
30	CTCF	chr7:8007600-8007750	AG10803	skin:	n/a	n/a
31	POLR2A	chr7:8007594-8009924	MCF10A-Er-Src	breast:	n/a	n/a
32	MTA3	chr7:8007602-8008347	GM12878	blood:	n/a	n/a
33	RFX5	chr7:8007525-8008678	GM12878	blood:	n/a	chr7:8008307-8008316
34	POLR2A	chr7:8006934-8012236	GM18505	blood:	n/a	n/a
35	POLR2A	chr7:8006829-8012192	GM12892	blood:	n/a	n/a
36	MAX	chr7:8007679-8009840	K562	blood:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
37	CTCF	chr7:8007660-8007810	AoAF	blood vessel:	n/a	n/a
38	POLR2A	chr7:8007683-8009125	GM12891	blood:	n/a	n/a
39	STAT3	chr7:8007456-8007786	MCF10A-Er-Src	breast:	n/a	n/a
40	CHD1	chr7:8007636-8009916	IMR90	lung:	n/a	chr7:8008401-8008411 chr7:8008924-8008934 chr7:8008931-8008941 chr7:8008787-8008797
41	ELK1	chr7:8007434-8008808	GM12878	blood:	n/a	n/a
42	CTCF	chr7:8007660-8007810	HVMF	connective:	n/a	n/a
43	POLR2A	chr7:8007655-8011507	GM18526	blood:	n/a	n/a
44	CTCF	chr7:8007700-8007850	AG09319	gingival:	n/a	n/a
45	SIN3AK20	chr7:8007696-8011233	MCF-7	breast:	n/a	n/a
46	POLR2A	chr7:8006998-8013228	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:8007325-8010927	Raji	blood:	n/a	n/a
48	RAD21	chr7:8007656-8008922	Hela-S3	cervix:	n/a	chr7:8008361-8008375 chr7:8008506-8008520 chr7:8008323-8008330
49	RUNX3	chr7:8007627-8009093	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:8007336-8009975	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:7947370..7958537-chr7:8006160..8010935,22	MCF-7	breast:
2	chr7:8006099..8007957-chr7:8009237..8011123,2	K562	blood:
3	chr7:8006167..8007991-chr7:8049393..8051817,2	MCF-7	breast:
4	chr7:8006325..8007944-chr7:8163309..8164919,2	MCF-7	breast:
5	chr7:8006834..8014864-chr7:8015250..8023851,23	K562	blood:
6	chr7:8007277..8011687-chr7:8017849..8023164,7	MCF-7	breast:
7	chr7:8006704..8009086-chr7:8043010..8045321,2	MCF-7	breast:

Variant related genes	Relation type
GLCCI1	TF binding region
ENSG00000233108	Chromatin interaction
ENSG00000214998	Chromatin interaction
ENSG00000233264	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	59 gene(s)	inside rSNPs	diseases
3	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv3336693	chr7:8007427-8010075	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7986800-8007800	Weak transcription	Ovary	ovary
2	chr7:8002600-8007800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:8007000-8007800	Enhancers	Fetal Heart	heart
4	chr7:8007000-8008200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:8007000-8008200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:8007000-8010200	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr7:8007200-8007800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr7:8007200-8007800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr7:8007200-8008000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr7:8007200-8008000	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr7:8007200-8008000	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr7:8007200-8008000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr7:8007200-8008000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr7:8007200-8008000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr7:8007200-8008000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr7:8007200-8008000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr7:8007200-8008000	Flanking Active TSS	Osteobl	bone
18	chr7:8007200-8008200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:8007200-8009400	Active TSS	Primary monocytes fromperipheralblood	blood
20	chr7:8007200-8010200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr7:8007200-8010400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:8007200-8010600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:8007200-8010600	Active TSS	Stomach Smooth Muscle	stomach
24	chr7:8007200-8012600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:8007200-8013400	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:8007400-8007800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr7:8007400-8007800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:8007400-8007800	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr7:8007400-8007800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:8007400-8007800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:8007400-8007800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:8007400-8007800	Enhancers	Brain Cingulate Gyrus	brain
33	chr7:8007400-8007800	Enhancers	Hela-S3	cervix
34	chr7:8007400-8007800	Flanking Active TSS	K562	blood
35	chr7:8007400-8008000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr7:8007400-8008000	Flanking Active TSS	Dnd41	blood
37	chr7:8007400-8008000	Flanking Active TSS	NHEK	skin
38	chr7:8007400-8008200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr7:8007400-8008200	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr7:8007400-8008200	Flanking Active TSS	HepG2	liver
41	chr7:8007400-8008200	Flanking Active TSS	HUVEC	blood vessel
42	chr7:8007400-8009800	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr7:8007400-8010200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:8007400-8010200	Active TSS	Colon Smooth Muscle	Colon
45	chr7:8007400-8010200	Active TSS	Fetal Lung	lung
46	chr7:8007400-8010200	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr7:8007400-8010200	Active TSS	Stomach Mucosa	stomach
48	chr7:8007400-8010400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr7:8007400-8010400	Active TSS	Fetal Kidney	kidney
50	chr7:8007400-8010400	Active TSS	NHDF-Ad	bronchial

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