Variant report

Variant	rs188511394
Chromosome Location	chr7:2905501-2905502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2902294..2906267-chr7:2911344..2915860,6	MCF-7	breast:
2	chr7:2899669..2908273-chr7:2908845..2917311,19	MCF-7	breast:
3	chr7:2882306..2885910-chr7:2901296..2905578,5	MCF-7	breast:
4	chr7:2902048..2907034-chr7:2912028..2916176,7	K562	blood:
5	chr7:2903257..2906477-chr7:2913665..2917327,3	K562	blood:
6	chr7:2901153..2906506-chr7:2906847..2911402,6	K562	blood:

Variant related genes	Relation type
ENSG00000146535	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	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv887313	chr7:2875420-2927120	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv887314	chr7:2875420-2944187	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv887315	chr7:2895627-2935424	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv526132	chr7:2904928-2968361	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv887316	chr7:2904928-2983520	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2900600-2910400	Weak transcription	Esophagus	oesophagus
2	chr7:2903400-2911400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:2903600-2910000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:2903600-2910000	Weak transcription	Thymus	Thymus
5	chr7:2903600-2921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:2903800-2909800	Weak transcription	Left Ventricle	heart
7	chr7:2903800-2910000	Weak transcription	Pancreas	Pancrea
8	chr7:2903800-2912800	Weak transcription	Right Atrium	heart
9	chr7:2903800-2914600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:2903800-2915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:2903800-2919000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:2904000-2910200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:2904000-2913200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:2904200-2909800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:2904400-2909800	Weak transcription	Primary B cells from cord blood	blood
16	chr7:2904600-2910000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:2904800-2907600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:2904800-2908400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:2904800-2908600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:2904800-2909000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:2904800-2909400	Weak transcription	Spleen	Spleen
22	chr7:2904800-2909600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:2904800-2909600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:2904800-2909600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:2904800-2909800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:2904800-2910000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:2904800-2910000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:2905000-2908200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:2905000-2908400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:2905000-2908400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:2905000-2909000	Weak transcription	Ovary	ovary
32	chr7:2905000-2909800	Weak transcription	Placenta	Placenta
33	chr7:2905000-2909800	Weak transcription	GM12878-XiMat	blood
34	chr7:2905000-2909800	Weak transcription	HUVEC	blood vessel
35	chr7:2905000-2910000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:2905000-2910000	Weak transcription	Lung	lung
37	chr7:2905000-2910000	Weak transcription	Right Ventricle	heart
38	chr7:2905000-2910000	Weak transcription	Stomach Mucosa	stomach
39	chr7:2905000-2910000	Weak transcription	NHDF-Ad	bronchial
40	chr7:2905000-2910000	Weak transcription	NHLF	lung
41	chr7:2905200-2906200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:2905200-2906400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:2905200-2908600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:2905200-2908600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:2905200-2908600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:2905200-2908600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:2905200-2909600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:2905200-2909600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:2905200-2909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:2905200-2909800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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