Variant report

Variant	rs10510607
Chromosome Location	chr3:28286261-28286262
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	chr3:28285641..28287606-chr3:28336808..28339197,2	K562	blood:
2	chr3:28283572..28286334-chr3:28300676..28304694,4	K562	blood:

Variant related genes	Relation type
ENSG00000187118	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10510609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12054402	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs17021298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1845166	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4502545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4680748	0.87[CHB][hapmap];0.83[CHD][hapmap]
rs4680903	0.80[ASN][1000 genomes]
rs4680905	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4680906	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs55954817	0.90[ASN][1000 genomes]
rs56029590	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56085195	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56188445	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7645825	0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[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	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10510607	MGC61571	cis	multi-tissue	Pritchard

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28283800-28311400	Weak transcription	Lung	lung
2	chr3:28284000-28286400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:28284000-28286400	Weak transcription	HSMM	muscle
4	chr3:28284000-28286600	Weak transcription	Brain Angular Gyrus	brain
5	chr3:28284000-28287000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:28284000-28290000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:28284000-28290800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:28284000-28304800	Weak transcription	Primary B cells from cord blood	blood
9	chr3:28284000-28309600	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:28284000-28313800	Weak transcription	Ovary	ovary
11	chr3:28284000-28317200	Weak transcription	Gastric	stomach
12	chr3:28284200-28286800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:28284200-28287200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr3:28284200-28287400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr3:28284200-28288600	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:28284200-28288800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:28284200-28292600	Weak transcription	Psoas Muscle	Psoas
18	chr3:28284200-28292800	Weak transcription	Small Intestine	intestine
19	chr3:28284400-28286400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr3:28284400-28286400	Enhancers	Fetal Heart	heart
21	chr3:28284400-28286600	Weak transcription	Stomach Mucosa	stomach
22	chr3:28284400-28286800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:28284400-28287000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:28284400-28287200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:28284400-28287800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:28284400-28288000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:28284400-28288000	Weak transcription	Right Atrium	heart
28	chr3:28284400-28288200	Enhancers	HepG2	liver
29	chr3:28284400-28288600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:28284400-28291400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:28284400-28292200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:28284400-28293600	Weak transcription	Right Ventricle	heart
33	chr3:28284400-28305400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:28284400-28305800	Weak transcription	Hela-S3	cervix
35	chr3:28284400-28311000	Weak transcription	Fetal Intestine Small	intestine
36	chr3:28284400-28312600	Weak transcription	Fetal Lung	lung
37	chr3:28284400-28321800	Weak transcription	NHLF	lung
38	chr3:28284600-28287000	Enhancers	Liver	Liver
39	chr3:28284600-28289400	Enhancers	Dnd41	blood
40	chr3:28284600-28291600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:28284600-28292200	Weak transcription	NHEK	skin
42	chr3:28284600-28292400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:28284600-28293400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:28284600-28305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:28284600-28306000	Weak transcription	A549	lung
46	chr3:28284600-28307200	Weak transcription	Fetal Intestine Large	intestine
47	chr3:28284600-28311200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:28284800-28287000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:28285200-28286600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:28285200-28288000	Weak transcription	Primary T cells from cord blood	blood

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