Variant report

Variant	rs6712404
Chromosome Location	chr2:233953421-233953422
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	chr2:233947227..233949457-chr2:233951983..233954748,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11678263	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4246650	1.00[ASN][1000 genomes]
rs6731994	0.82[AMR][1000 genomes];0.83[ASN][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	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233946800-233958600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:233948200-233957800	Weak transcription	Liver	Liver
3	chr2:233948600-233971800	Weak transcription	Right Ventricle	heart
4	chr2:233949400-233958200	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr2:233949600-233958600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:233949800-233965000	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr2:233950600-233953600	Weak transcription	Left Ventricle	heart
8	chr2:233950800-233955800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:233951200-233957000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:233951200-233957200	Strong transcription	Thymus	Thymus
11	chr2:233951400-233954800	Genic enhancers	Primary hematopoietic stem cells	blood
12	chr2:233951400-233955800	Strong transcription	Fetal Thymus	thymus
13	chr2:233951400-233956400	Weak transcription	Brain Substantia Nigra	brain
14	chr2:233951600-233953800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:233951600-233954800	Genic enhancers	Primary B cells from cord blood	blood
16	chr2:233951800-233953800	Strong transcription	HepG2	liver
17	chr2:233951800-233954200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:233951800-233954600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:233951800-233956200	Weak transcription	Fetal Intestine Small	intestine
20	chr2:233951800-233956600	Strong transcription	Primary T cells from cord blood	blood
21	chr2:233951800-233956600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:233951800-233957000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:233951800-233957200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr2:233951800-233965200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:233952000-233954000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:233952000-233958400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:233952200-233953800	Strong transcription	Dnd41	blood
28	chr2:233952200-233956400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:233952400-233954400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:233952400-233955800	Enhancers	K562	blood
31	chr2:233952400-233956400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:233952400-233956400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:233952600-233954000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:233952600-233957400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:233952600-233958600	Weak transcription	Adipose Nuclei	Adipose
36	chr2:233952800-233953800	Enhancers	Lung	lung
37	chr2:233952800-233954000	Enhancers	Placenta	Placenta
38	chr2:233952800-233957000	Genic enhancers	GM12878-XiMat	blood
39	chr2:233953000-233953800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:233953000-233953800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
41	chr2:233953000-233954000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:233953000-233954600	Genic enhancers	Primary monocytes fromperipheralblood	blood
43	chr2:233953000-233955400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr2:233953200-233953800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:233953200-233954400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
46	chr2:233953200-233958600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:233953400-233953600	Enhancers	Colonic Mucosa	Colon
48	chr2:233953400-233954000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:233953400-233954200	Enhancers	Brain Hippocampus Middle	brain
50	chr2:233953400-233955000	Genic enhancers	Spleen	Spleen

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