Variant report

Variant	rs13403950
Chromosome Location	chr2:86246672-86246673
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	chr2:86246321..86249614-chr2:86252792..86256934,5	K562	blood:
2	chr2:86245953..86248682-chr2:86248829..86250857,3	K562	blood:

Variant related genes	Relation type
ENSG00000068654	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12124	1.00[AMR][1000 genomes]
rs35239368	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86242200-86251200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:86242600-86246800	Enhancers	Fetal Thymus	thymus
3	chr2:86244000-86251800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:86244200-86248200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:86244200-86248600	Weak transcription	Right Atrium	heart
6	chr2:86244200-86257000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:86244400-86247800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:86244400-86252400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:86244400-86252600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:86244400-86252800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:86244400-86253000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:86244400-86255000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:86244600-86248000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:86244600-86251000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:86244600-86251200	Weak transcription	Primary T cells from cord blood	blood
16	chr2:86244600-86251400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:86244600-86251400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:86244600-86251800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:86244600-86252400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr2:86244600-86252600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:86244600-86255200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:86244600-86257200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:86244800-86253600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:86245000-86251400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:86245000-86252400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:86245000-86252600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr2:86245400-86247800	Weak transcription	Fetal Brain Female	brain
28	chr2:86245400-86247800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:86245400-86251000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:86245400-86251200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:86245400-86251200	Weak transcription	A549	lung
32	chr2:86245400-86252400	Weak transcription	Esophagus	oesophagus
33	chr2:86245400-86252600	Weak transcription	Hela-S3	cervix
34	chr2:86245400-86254000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:86245400-86254600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:86245400-86257200	Weak transcription	Stomach Mucosa	stomach
37	chr2:86245400-86257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:86245400-86263400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr2:86245600-86248000	Weak transcription	Lung	lung
40	chr2:86245600-86248000	Weak transcription	HUVEC	blood vessel
41	chr2:86245600-86248200	Weak transcription	Gastric	stomach
42	chr2:86245600-86248200	Weak transcription	Left Ventricle	heart
43	chr2:86245600-86248400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:86245600-86248400	Weak transcription	Spleen	Spleen
45	chr2:86245600-86251600	Weak transcription	HMEC	breast
46	chr2:86245600-86252400	Weak transcription	NHEK	skin
47	chr2:86245600-86253600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:86245800-86247800	Weak transcription	Adipose Nuclei	Adipose
49	chr2:86245800-86248200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:86245800-86251200	Weak transcription	Muscle Satellite Cultured Cells	--

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