Variant report

Variant	rs10951174
Chromosome Location	chr7:27668658-27668659
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1000317	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12155171	0.94[EUR][1000 genomes]
rs12532737	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13227521	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs13227574	0.95[CEU][hapmap];0.84[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13231645	0.94[CEU][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13232561	0.94[CEU][hapmap]
rs13236065	0.95[EUR][1000 genomes]
rs13236908	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs13241127	0.89[AMR][1000 genomes]
rs13247831	0.81[EUR][1000 genomes]
rs34578407	0.86[EUR][1000 genomes]
rs34638402	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35105727	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35232956	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35536764	0.93[EUR][1000 genomes]
rs35733141	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35771883	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35816118	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35925990	0.82[EUR][1000 genomes]
rs36069602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36114463	0.87[EUR][1000 genomes]
rs4391326	0.84[EUR][1000 genomes]
rs4719901	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4722725	0.84[CEU][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6944455	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6968631	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6969043	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6969207	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71539523	0.80[EUR][1000 genomes]
rs71539525	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71539526	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71539527	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71539529	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71539544	0.81[EUR][1000 genomes]
rs71555704	0.80[AMR][1000 genomes];1.00[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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv1802647	chr7:27658495-27673924	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10951174	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27651800-27674200	Weak transcription	Hela-S3	cervix
2	chr7:27654400-27696400	Weak transcription	Gastric	stomach
3	chr7:27658800-27687800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:27658800-27688600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:27659800-27672800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:27659800-27675400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:27659800-27679000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:27660000-27669800	Weak transcription	Left Ventricle	heart
9	chr7:27660000-27680600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:27660200-27674600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:27660400-27675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:27660400-27680200	Weak transcription	Fetal Kidney	kidney
13	chr7:27660600-27674800	Weak transcription	Psoas Muscle	Psoas
14	chr7:27660600-27701000	Weak transcription	Right Ventricle	heart
15	chr7:27660800-27675600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:27660800-27676400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:27661000-27675000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:27661000-27675400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:27661000-27679600	Weak transcription	HSMMtube	muscle
20	chr7:27661000-27680600	Weak transcription	HepG2	liver
21	chr7:27661000-27688000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:27661200-27675200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:27661200-27694800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr7:27661400-27669800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:27661400-27670000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:27661400-27675200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:27661400-27688800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:27661400-27700800	Weak transcription	Thymus	Thymus
29	chr7:27661600-27681000	Weak transcription	NHEK	skin
30	chr7:27661800-27669800	Weak transcription	Fetal Stomach	stomach
31	chr7:27661800-27674400	Weak transcription	Aorta	Aorta
32	chr7:27661800-27675800	Weak transcription	Primary B cells from cord blood	blood
33	chr7:27661800-27680200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:27661800-27681400	Weak transcription	Pancreas	Pancrea
35	chr7:27661800-27686400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:27661800-27692200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:27661800-27694400	Weak transcription	Lung	lung
38	chr7:27662000-27675200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:27662200-27674400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:27662400-27686800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr7:27662600-27688200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:27662800-27674200	Weak transcription	Brain Substantia Nigra	brain
43	chr7:27662800-27688000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr7:27663000-27670800	Weak transcription	Primary T cells from cord blood	blood
45	chr7:27663000-27674400	Weak transcription	Brain Angular Gyrus	brain
46	chr7:27663200-27674400	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:27663200-27675000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr7:27663800-27669800	Weak transcription	Fetal Intestine Small	intestine
49	chr7:27664000-27675200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:27664400-27680400	Weak transcription	NH-A	brain

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