Variant report

Variant	rs372412617
Chromosome Location	chr7:70294609-70294610
allele	-/CT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:70294046..70294810-chr7:70321629..70322145,2	MCF-7	breast:
2	chr7:70293870..70294792-chr7:71200529..71201300,6	MCF-7	breast:
3	chr7:70294183..70294797-chr7:71197949..71198693,3	MCF-7	breast:
4	chr7:70294117..70295302-chr7:71197788..71199575,6	MCF-7	breast:
5	chr7:70293845..70294790-chr7:71197836..71198902,6	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1028853	chr7:70211620-70523331	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv533212	chr7:70220687-70511129	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv888341	chr7:70249358-70316365	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv429772	chr7:70250125-70357061	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv607437	chr7:70251651-70568354	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1031764	chr7:70271645-70420426	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers 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
13	nsv1034508	chr7:70277984-70420426	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1019598	chr7:70285963-70358327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv429773	chr7:70285994-70357061	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv3350369	chr7:70288094-70503884	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv429774	chr7:70294296-70357061	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70294000-70294800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:70294000-70295200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:70294000-70296400	Enhancers	Liver	Liver
4	chr7:70294200-70295000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr7:70294200-70295000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr7:70294200-70295000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:70294400-70294800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr7:70294400-70294800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:70294400-70294800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:70294400-70294800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr7:70294400-70294800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr7:70294400-70294800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr7:70294400-70294800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr7:70294400-70294800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr7:70294400-70294800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr7:70294400-70294800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr7:70294400-70294800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr7:70294400-70294800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:70294400-70294800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr7:70294400-70294800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
21	chr7:70294400-70294800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr7:70294400-70294800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:70294400-70294800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:70294400-70294800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
25	chr7:70294400-70294800	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr7:70294400-70294800	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr7:70294400-70294800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr7:70294400-70294800	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr7:70294400-70294800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr7:70294400-70294800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:70294400-70294800	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr7:70294400-70294800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
33	chr7:70294400-70294800	Flanking Active TSS	Fetal Brain Male	brain
34	chr7:70294400-70294800	Flanking Active TSS	Fetal Brain Female	brain
35	chr7:70294400-70294800	Flanking Active TSS	Fetal Heart	heart
36	chr7:70294400-70294800	Bivalent Enhancer	Fetal Intestine Large	intestine
37	chr7:70294400-70294800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
38	chr7:70294400-70294800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
39	chr7:70294400-70294800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr7:70294400-70294800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr7:70294400-70294800	Enhancers	Fetal Thymus	thymus
42	chr7:70294400-70294800	Enhancers	Gastric	stomach
43	chr7:70294400-70294800	Flanking Active TSS	Ovary	ovary
44	chr7:70294400-70294800	Bivalent Enhancer	Psoas Muscle	Psoas
45	chr7:70294400-70294800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
46	chr7:70294400-70294800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr7:70294400-70294800	Flanking Active TSS	GM12878-XiMat	blood
48	chr7:70294400-70294800	Enhancers	HepG2	liver
49	chr7:70294400-70294800	Flanking Active TSS	NH-A	brain
50	chr7:70294400-70294800	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial

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