Variant report

Variant	rs3730011
Chromosome Location	chr7:150710392-150710393
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	CTCF	chr7:150710340-150710490	HVMF	connective:	n/a	n/a
2	POLR2A	chr7:150710248-150711083	K562	blood:	n/a	n/a
3	MXI1	chr7:150709550-150711788	SK-N-SH	brain:	n/a	n/a
4	RAD21	chr7:150709540-150710682	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr7:150709811-150710417	K562	blood:	n/a	n/a
6	SMC3	chr7:150709536-150710645	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr7:150710360-150710510	AG04449	skin:	n/a	n/a
8	RFX5	chr7:150709596-150711756	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr7:150709262-150710466	A549	lung:	n/a	n/a
10	CTCF	chr7:150709539-150711558	SK-N-SH	brain:	n/a	chr7:150710777-150710786 chr7:150710777-150710790 chr7:150710632-150710645
11	CTCF	chr7:150710260-150710410	GM12875	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150710016..150711023-chr7:150807320..150808378,4	K562	blood:
2	chr7:150708483..150712186-chr7:150712647..150718557,9	MCF-7	breast:
3	chr7:150709937..150710499-chr7:150820826..150821700,2	MCF-7	breast:

Variant related genes	Relation type
ATG9B	TF binding region
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10441169	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
8	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
9	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv889471	chr7:150700946-150751590	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv889474	chr7:150705842-150717153	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150705000-150711000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr7:150705800-150710800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:150705800-150711000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:150706000-150710800	Weak transcription	Left Ventricle	heart
5	chr7:150706000-150711000	Enhancers	Primary T cells from cord blood	blood
6	chr7:150706000-150711000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr7:150706000-150711000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:150706200-150710400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr7:150706200-150710800	Weak transcription	Right Atrium	heart
10	chr7:150706800-150710600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:150707600-150711000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr7:150707800-150710800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr7:150707800-150714200	Weak transcription	Dnd41	blood
14	chr7:150708200-150710400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:150708200-150710400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr7:150708200-150711000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:150708200-150711000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr7:150708400-150710800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:150708400-150711000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:150708400-150711000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr7:150708800-150710400	Flanking Active TSS	HepG2	liver
22	chr7:150708800-150710800	Enhancers	Duodenum Mucosa	Duodenum
23	chr7:150709000-150710800	Genic enhancers	Spleen	Spleen
24	chr7:150709400-150710400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:150709400-150710400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr7:150709400-150710600	Enhancers	Stomach Mucosa	stomach
27	chr7:150709400-150710800	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr7:150709400-150710800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
29	chr7:150709400-150710800	Enhancers	Esophagus	oesophagus
30	chr7:150709400-150710800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr7:150709400-150710800	Bivalent Enhancer	Fetal Stomach	stomach
32	chr7:150709400-150710800	Bivalent Enhancer	Fetal Thymus	thymus
33	chr7:150709400-150711000	Enhancers	Fetal Lung	lung
34	chr7:150709400-150711200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr7:150709600-150710400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:150709600-150710600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:150709600-150710600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr7:150709600-150710800	Enhancers	Pancreas	Pancrea
39	chr7:150709600-150711000	Enhancers	Placenta	Placenta
40	chr7:150709800-150710400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:150709800-150710400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:150709800-150710400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr7:150709800-150710400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:150709800-150710800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
45	chr7:150709800-150711000	Bivalent/Poised TSS	Fetal Brain Female	brain
46	chr7:150709800-150711600	Enhancers	Fetal Heart	heart
47	chr7:150710000-150710400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr7:150710000-150710400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:150710000-150710400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:150710000-150710400	Flanking Active TSS	Brain Anterior Caudate	brain

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