Variant report

Variant	rs534515526
Chromosome Location	chr2:127414786-127414787
allele	-/GAGCTTGGA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127414075..127416361-chr2:127822342..127824026,2	K562	blood:

Variant related genes	Relation type
ENSG00000136717	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875000	chr2:127402833-127423066	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875001	chr2:127402833-127431312	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv875002	chr2:127412013-127420211	Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875003	chr2:127412495-127419582	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv875004	chr2:127412495-127420211	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv583012	chr2:127414661-127420228	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv875005	chr2:127414661-127423066	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127412800-127416200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:127413000-127414800	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr2:127413000-127416600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr2:127413000-127416800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr2:127413000-127417000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:127413200-127414800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:127413200-127414800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr2:127413200-127415000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:127413200-127415000	Active TSS	Aorta	Aorta
10	chr2:127413200-127415000	Active TSS	Ovary	ovary
11	chr2:127413200-127415200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr2:127413200-127415200	Active TSS	Brain Substantia Nigra	brain
13	chr2:127413200-127415400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:127413200-127415400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:127413200-127415400	Active TSS	Psoas Muscle	Psoas
16	chr2:127413200-127415800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:127413200-127415800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr2:127413200-127416000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:127413400-127414800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:127413400-127414800	Active TSS	Left Ventricle	heart
21	chr2:127413400-127414800	Active TSS	Lung	lung
22	chr2:127413400-127414800	Active TSS	Rectal Smooth Muscle	rectum
23	chr2:127413400-127414800	Active TSS	Right Atrium	heart
24	chr2:127413400-127415000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr2:127413400-127415000	Active TSS	Brain Angular Gyrus	brain
26	chr2:127413400-127415000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:127413400-127415200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:127413400-127415200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:127413400-127415200	Active TSS	Colon Smooth Muscle	Colon
30	chr2:127413400-127415200	Active TSS	NHLF	lung
31	chr2:127413400-127415400	Active TSS	Brain Anterior Caudate	brain
32	chr2:127413400-127415400	Active TSS	Brain Hippocampus Middle	brain
33	chr2:127413400-127415400	Active TSS	Pancreas	Pancrea
34	chr2:127413400-127415400	Active TSS	Right Ventricle	heart
35	chr2:127413400-127415600	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:127413400-127416200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:127413600-127414800	Active TSS	Primary B cells from peripheral blood	blood
38	chr2:127413600-127414800	Active TSS	Primary T cells fromperipheralblood	blood
39	chr2:127413600-127414800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:127413600-127414800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr2:127413600-127414800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr2:127413600-127414800	Active TSS	Esophagus	oesophagus
43	chr2:127413600-127414800	Active TSS	Small Intestine	intestine
44	chr2:127413600-127414800	Active TSS	Spleen	Spleen
45	chr2:127413600-127415000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:127413600-127415200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr2:127413600-127415200	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr2:127413600-127415200	Active TSS	Gastric	stomach
49	chr2:127413600-127415400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:127413600-127415400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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