Variant report

Variant	rs10743084
Chromosome Location	chr11:8657321-8657322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8656504..8659058-chr11:8708189..8710580,2	K562	blood:
2	chr11:8653142..8657454-chr11:8704411..8706075,3	K562	blood:
3	chr11:8656731..8658560-chr11:8702346..8704110,2	K562	blood:
4	chr11:8656731..8659326-chr11:8702610..8704199,2	K562	blood:
5	chr11:8656504..8659058-chr11:8708189..8711996,3	K562	blood:

Variant related genes	Relation type
ENSG00000166441	Chromatin interaction
ENSG00000200983	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10128597	0.91[LWK][hapmap];0.93[YRI][hapmap]
rs10160373	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1026021	0.88[GIH][hapmap];1.00[MEX][hapmap]
rs10743073	0.86[GIH][hapmap];0.95[MEX][hapmap]
rs11042019	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11042033	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12286011	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12295729	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12295855	0.86[GIH][hapmap];0.90[MEX][hapmap]
rs12787554	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13328833	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16938253	0.84[GIH][hapmap];0.90[MEX][hapmap]
rs2166470	0.91[GIH][hapmap];0.90[MEX][hapmap]
rs34655699	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3942866	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57012665	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7931834	0.91[GIH][hapmap];0.95[MEX][hapmap]
rs7935453	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7947230	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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	esv2751035	chr11:8431654-8685451	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv896983	chr11:8526643-8682465	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs10743084	HBB	cis	cerebellum	SCAN
rs10743084	OR52E2	cis	parietal	SCAN
rs10743084	STK33	cis	cerebellum	SCAN
rs10743084	AMPD3	cis	parietal	SCAN
rs10743084	SNORA45	cis	cerebellum	SCAN
rs10743084	ST5	cis	cerebellum	SCAN
rs10743084	RPL27A	cis	parietal	SCAN
rs10743084	SWAP70	cis	cerebellum	SCAN
rs10743084	SNORA45	cis	parietal	SCAN
rs10743084	RPL27A	cis	cerebellum	SCAN
rs10743084	OR51E2	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8626000-8661600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:8626000-8661800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:8626800-8659600	Weak transcription	Hela-S3	cervix
4	chr11:8632800-8659000	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:8632800-8663800	Weak transcription	Fetal Kidney	kidney
6	chr11:8634600-8661600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:8634600-8661800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:8634800-8657600	Weak transcription	Psoas Muscle	Psoas
9	chr11:8635400-8661400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:8636200-8661400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:8637000-8661600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:8637000-8703200	Weak transcription	Small Intestine	intestine
13	chr11:8637400-8659200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:8637800-8657800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:8638400-8657400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:8639600-8661000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:8639800-8659800	Weak transcription	K562	blood
18	chr11:8641400-8661600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:8641800-8666200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:8643400-8658800	Weak transcription	HSMMtube	muscle
21	chr11:8643800-8659200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:8644800-8663400	Weak transcription	Fetal Lung	lung
23	chr11:8644800-8667000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:8646000-8661600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:8646200-8671000	Weak transcription	HUVEC	blood vessel
26	chr11:8646400-8666400	Weak transcription	HSMM	muscle
27	chr11:8646800-8657400	Weak transcription	Left Ventricle	heart
28	chr11:8646800-8657800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:8647000-8658000	Weak transcription	Colonic Mucosa	Colon
30	chr11:8647000-8659200	Weak transcription	NHEK	skin
31	chr11:8647000-8661200	Weak transcription	Right Ventricle	heart
32	chr11:8647200-8657800	Weak transcription	Esophagus	oesophagus
33	chr11:8647400-8659800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:8649600-8657600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr11:8649600-8665400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr11:8650800-8676200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr11:8651000-8657600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:8651200-8657600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:8652000-8657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:8652200-8675000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr11:8653200-8659800	Weak transcription	NHDF-Ad	bronchial
42	chr11:8653400-8659600	Weak transcription	Osteobl	bone
43	chr11:8653400-8659800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:8653400-8659800	Weak transcription	NH-A	brain
45	chr11:8653400-8659800	Weak transcription	NHLF	lung
46	chr11:8653400-8663800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:8653400-8664000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:8653400-8667000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr11:8653600-8661600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr11:8654000-8657800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links