Variant report

Variant	rs966783
Chromosome Location	chr2:179707917-179707918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178978517..178980297-chr2:179707105..179709962,2	K562	blood:
2	chr2:179314231..179316587-chr2:179707084..179709423,2	K562	blood:

Variant related genes	Relation type
ENSG00000180228	Chromatin interaction
ENSG00000204311	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10190741	1.00[JPT][hapmap]
rs10497527	0.86[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464157	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12464215	1.00[JPT][hapmap]
rs12464703	1.00[AFR][1000 genomes]
rs12468141	0.93[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12469672	0.85[AMR][1000 genomes]
rs12476203	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476289	1.00[AFR][1000 genomes]
rs12477340	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1387472	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1489481	0.85[CHB][hapmap];0.91[ASN][1000 genomes]
rs16866497	1.00[AFR][1000 genomes]
rs16866532	1.00[AFR][1000 genomes]
rs17453396	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453403	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1883085	1.00[AFR][1000 genomes]
rs2253324	1.00[AFR][1000 genomes]
rs2291304	1.00[AFR][1000 genomes]
rs2291305	1.00[AFR][1000 genomes]
rs2291308	1.00[AFR][1000 genomes]
rs2306636	1.00[AFR][1000 genomes]
rs2562829	1.00[AFR][1000 genomes]
rs2742354	0.85[CHB][hapmap]
rs2742357	1.00[AFR][1000 genomes]
rs3769860	1.00[AFR][1000 genomes]
rs4894054	0.83[ASN][1000 genomes]
rs55800269	0.81[AMR][1000 genomes]
rs55863869	1.00[AFR][1000 genomes]
rs55913885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030306	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs56120016	1.00[AFR][1000 genomes]
rs56142888	1.00[AFR][1000 genomes]
rs66677602	1.00[AFR][1000 genomes]
rs72647839	1.00[AFR][1000 genomes]
rs72647889	1.00[AFR][1000 genomes]
rs72648917	1.00[AFR][1000 genomes]
rs966449	0.85[CHB][hapmap];0.91[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	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179693000-179709200	Weak transcription	Aorta	Aorta
2	chr2:179693400-179712600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:179693400-179726000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:179694000-179710000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:179694200-179713400	Weak transcription	Spleen	Spleen
6	chr2:179695600-179709000	Weak transcription	Ovary	ovary
7	chr2:179695600-179712600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:179695600-179712600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:179695600-179713000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:179695800-179709000	Weak transcription	HSMMtube	muscle
11	chr2:179695800-179711000	Weak transcription	Right Ventricle	heart
12	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
13	chr2:179696400-179728800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:179699600-179708200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:179701800-179710400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:179701800-179712000	Weak transcription	Primary B cells from cord blood	blood
17	chr2:179701800-179712200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:179702000-179710400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:179702200-179709000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:179702200-179710000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:179702200-179713200	Weak transcription	Fetal Thymus	thymus
22	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
23	chr2:179702400-179709200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:179702400-179710000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:179702400-179729200	Weak transcription	Lung	lung
26	chr2:179702400-179730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:179702800-179709000	Weak transcription	Fetal Heart	heart
28	chr2:179702800-179728600	Weak transcription	Pancreas	Pancrea
29	chr2:179703400-179712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:179703800-179709000	Weak transcription	Left Ventricle	heart
31	chr2:179704400-179720800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:179705400-179709000	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:179707200-179721000	Strong transcription	Primary T cells from cord blood	blood
34	chr2:179707600-179708000	Enhancers	Psoas Muscle	Psoas
35	chr2:179707600-179709200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:179707800-179711200	Enhancers	Brain Germinal Matrix	brain

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