Variant report

Variant	rs6751416
Chromosome Location	chr2:10475484-10475485
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10472884..10475562-chr2:10547169..10549759,2	K562	blood:
2	chr2:10260939..10262516-chr2:10473793..10475648,2	K562	blood:

Variant related genes	Relation type
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11891604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328290	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13402238	0.86[EUR][1000 genomes]
rs1558628	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1558629	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55638790	0.87[EUR][1000 genomes]
rs56011627	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56261863	0.87[EUR][1000 genomes]
rs57128023	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59408255	0.95[EUR][1000 genomes]
rs60661460	0.87[EUR][1000 genomes]
rs6735172	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743846	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs6745569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755410	0.87[EUR][1000 genomes]
rs6758633	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs6758955	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs73161267	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73161277	0.93[EUR][1000 genomes]
rs73161279	0.84[EUR][1000 genomes]
rs73161280	0.84[EUR][1000 genomes]
rs7557360	0.85[EUR][1000 genomes]
rs7581642	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10467200-10482800	Weak transcription	Psoas Muscle	Psoas
2	chr2:10468600-10477800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:10472200-10482600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:10472200-10494200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:10472400-10476000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:10472400-10478600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:10472400-10480000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:10472400-10486200	Weak transcription	Esophagus	oesophagus
9	chr2:10473000-10483400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:10473000-10484400	Weak transcription	Right Atrium	heart
11	chr2:10473000-10484800	Weak transcription	Osteobl	bone
12	chr2:10473000-10486000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:10473000-10486000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:10473000-10486000	Weak transcription	HUVEC	blood vessel
15	chr2:10473000-10489200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:10473400-10484800	Weak transcription	Small Intestine	intestine
17	chr2:10473400-10496200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:10473600-10478400	Weak transcription	Right Ventricle	heart
19	chr2:10473600-10478600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:10473600-10480200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:10473600-10487200	Weak transcription	Colonic Mucosa	Colon
22	chr2:10473800-10478600	Weak transcription	Gastric	stomach
23	chr2:10473800-10482400	Weak transcription	Left Ventricle	heart
24	chr2:10473800-10483400	Weak transcription	Ovary	ovary
25	chr2:10474000-10478800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:10474600-10476400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:10474600-10476600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:10474800-10475800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:10474800-10475800	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr2:10475000-10475600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:10475000-10475600	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr2:10475000-10475600	ZNF genes & repeats	Spleen	Spleen
33	chr2:10475000-10475800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:10475000-10475800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:10475000-10475800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr2:10475000-10475800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:10475000-10475800	ZNF genes & repeats	Thymus	Thymus
38	chr2:10475000-10476000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr2:10475000-10476000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr2:10475000-10476000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:10475000-10477000	Strong transcription	Liver	Liver
42	chr2:10475200-10475600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:10475200-10475600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
44	chr2:10475200-10475600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
45	chr2:10475200-10475600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:10475200-10475600	ZNF genes & repeats	Fetal Lung	lung
47	chr2:10475200-10475600	ZNF genes & repeats	Lung	lung
48	chr2:10475200-10475600	ZNF genes & repeats	Hela-S3	cervix
49	chr2:10475200-10475600	ZNF genes & repeats	HSMM	muscle
50	chr2:10475200-10475800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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