Variant report

Variant	rs6735172
Chromosome Location	chr2:10475013-10475014
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	chr2:10472884..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:22)

rs_ID	r²[population]
rs11891604	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328290	0.87[EUR][1000 genomes]
rs13402238	0.93[EUR][1000 genomes]
rs1558628	0.87[EUR][1000 genomes]
rs1558629	0.87[EUR][1000 genomes]
rs55638790	0.94[EUR][1000 genomes]
rs56011627	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56261863	0.94[EUR][1000 genomes]
rs57128023	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59408255	0.87[EUR][1000 genomes]
rs60661460	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6743846	0.94[EUR][1000 genomes]
rs6745569	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751416	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755410	0.94[EUR][1000 genomes]
rs6758633	0.94[EUR][1000 genomes]
rs6758955	0.87[EUR][1000 genomes]
rs73161267	0.87[EUR][1000 genomes]
rs73161277	0.86[EUR][1000 genomes]
rs73161279	0.91[EUR][1000 genomes]
rs73161280	0.91[EUR][1000 genomes]
rs7581642	0.89[EUR][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	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
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 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	chr2:10471200-10475200	Weak transcription	HMEC	breast
4	chr2:10471200-10475200	Weak transcription	NHEK	skin
5	chr2:10471600-10475200	Weak transcription	HSMM	muscle
6	chr2:10471800-10475400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:10471800-10475400	Weak transcription	HSMMtube	muscle
8	chr2:10472000-10475200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:10472000-10475200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:10472000-10475200	Weak transcription	Brain Anterior Caudate	brain
11	chr2:10472000-10475400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:10472200-10482600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:10472200-10494200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:10472400-10476000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:10472400-10478600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:10472400-10480000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:10472400-10486200	Weak transcription	Esophagus	oesophagus
18	chr2:10472600-10475200	Weak transcription	Hela-S3	cervix
19	chr2:10472800-10475200	Weak transcription	Fetal Stomach	stomach
20	chr2:10473000-10483400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:10473000-10484400	Weak transcription	Right Atrium	heart
22	chr2:10473000-10484800	Weak transcription	Osteobl	bone
23	chr2:10473000-10486000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:10473000-10486000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:10473000-10486000	Weak transcription	HUVEC	blood vessel
26	chr2:10473000-10489200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:10473400-10475400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:10473400-10484800	Weak transcription	Small Intestine	intestine
29	chr2:10473400-10496200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:10473600-10475200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:10473600-10475200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:10473600-10475200	Weak transcription	Fetal Lung	lung
33	chr2:10473600-10475200	Weak transcription	Lung	lung
34	chr2:10473600-10475400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:10473600-10478400	Weak transcription	Right Ventricle	heart
36	chr2:10473600-10478600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:10473600-10480200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:10473600-10487200	Weak transcription	Colonic Mucosa	Colon
39	chr2:10473800-10475200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:10473800-10475200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:10473800-10475200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:10473800-10475200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:10473800-10475200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:10473800-10475200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:10473800-10475200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:10473800-10475200	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:10473800-10475200	Weak transcription	HepG2	liver
48	chr2:10473800-10475400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:10473800-10475400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:10473800-10475400	Weak transcription	Pancreas	Pancrea

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