Variant report

Variant	rs112844975
Chromosome Location	chr7:70160499-70160500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70157686..70159380-chr7:70159994..70162274,2	MCF-7	breast:

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	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1025522	chr7:69971452-70173513	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS 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	1 gene(s)	inside rSNPs	diseases
6	nsv1032378	chr7:70010392-70190353	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538929	chr7:70010392-70190353	Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024498	chr7:70016323-70190353	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv538930	chr7:70016323-70190353	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1029757	chr7:70061656-70190100	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538932	chr7:70061656-70190100	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
17	nsv1031761	chr7:70125949-70182744	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv538933	chr7:70125949-70182744	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv3354362	chr7:70158241-70160989	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv3324748	chr7:70158266-70160839	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70158200-70161800	Active TSS	NHDF-Ad	bronchial
2	chr7:70158400-70160800	Active TSS	Psoas Muscle	Psoas
3	chr7:70158400-70161000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:70158400-70161000	Active TSS	Osteobl	bone
5	chr7:70158400-70161200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:70158400-70161400	Active TSS	Brain Angular Gyrus	brain
7	chr7:70158400-70161600	Active TSS	Brain Substantia Nigra	brain
8	chr7:70158400-70161600	Active TSS	Ovary	ovary
9	chr7:70158400-70161800	Active TSS	Brain Hippocampus Middle	brain
10	chr7:70158400-70163600	Active TSS	Brain Anterior Caudate	brain
11	chr7:70158600-70160600	Active TSS	Spleen	Spleen
12	chr7:70158600-70161000	Active TSS	Primary T cells from cord blood	blood
13	chr7:70158600-70161000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr7:70158600-70161200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr7:70158600-70161200	Active TSS	HMEC	breast
16	chr7:70158600-70161400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:70158600-70161400	Active TSS	Esophagus	oesophagus
18	chr7:70158600-70161400	Active TSS	Left Ventricle	heart
19	chr7:70158600-70161400	Bivalent/Poised TSS	A549	lung
20	chr7:70158600-70161600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:70158600-70161600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:70158600-70161800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:70158600-70161800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:70158600-70161800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr7:70158600-70161800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:70158600-70161800	Active TSS	Fetal Intestine Large	intestine
27	chr7:70158600-70161800	Active TSS	Fetal Kidney	kidney
28	chr7:70158600-70161800	Active TSS	Rectal Smooth Muscle	rectum
29	chr7:70158600-70162000	Active TSS	Aorta	Aorta
30	chr7:70158600-70162200	Active TSS	NHLF	lung
31	chr7:70158600-70164000	Active TSS	GM12878-XiMat	blood
32	chr7:70158800-70160600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:70158800-70160600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:70158800-70160800	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr7:70158800-70160800	Active TSS	Duodenum Mucosa	Duodenum
36	chr7:70158800-70160800	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr7:70158800-70160800	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr7:70158800-70160800	Bivalent/Poised TSS	Thymus	Thymus
39	chr7:70158800-70161000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:70158800-70161000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:70158800-70161000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:70158800-70161000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr7:70158800-70161000	Active TSS	Liver	Liver
44	chr7:70158800-70161000	Active TSS	Fetal Thymus	thymus
45	chr7:70158800-70161200	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr7:70158800-70161200	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr7:70158800-70161200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:70158800-70161200	Active TSS	Fetal Lung	lung
49	chr7:70158800-70161200	Active TSS	Fetal Stomach	stomach
50	chr7:70158800-70161200	Active TSS	Placenta Amnion	Placenta Amnion

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