Variant report

Variant	rs41326151
Chromosome Location	chr7:27648621-27648622
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27646490..27649640-chr7:27701348..27703322,3	K562	blood:
2	chr7:27647308..27649264-chr7:27813060..27815813,2	K562	blood:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1014372	0.90[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10249314	0.86[CEU][hapmap]
rs11761718	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11761773	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11762056	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11764419	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs11764624	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11765792	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11768533	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11771265	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11772163	0.91[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11773626	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12700813	0.86[YRI][hapmap]
rs17607155	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17607303	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17680908	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17683094	0.91[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs42090	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs42093	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs42096	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs42097	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57863648	0.86[EUR][1000 genomes]
rs59505903	0.83[EUR][1000 genomes]
rs60247061	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60326970	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60939746	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61659103	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62454846	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62454847	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62454852	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62454853	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62454854	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62454909	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62454911	0.86[EUR][1000 genomes]
rs62454912	0.86[EUR][1000 genomes]
rs62454913	0.86[EUR][1000 genomes]
rs62456899	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62456903	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62456949	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62456952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62456953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68015840	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6945079	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6946582	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6978979	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075112	0.87[EUR][1000 genomes]
rs73079438	0.82[AMR][1000 genomes]
rs7456595	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7795207	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7803464	0.94[AMR][1000 genomes];0.92[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41326151	HIBADH	cis	lymphoblastoid	seeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27582400-27650800	Weak transcription	Left Ventricle	heart
2	chr7:27609400-27651000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:27615600-27657800	Weak transcription	Aorta	Aorta
4	chr7:27616000-27650800	Weak transcription	Fetal Kidney	kidney
5	chr7:27626600-27654800	Weak transcription	Placenta	Placenta
6	chr7:27626800-27655800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:27628200-27658400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:27628600-27658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:27629600-27655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:27630200-27654600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:27630400-27656800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:27632200-27655600	Weak transcription	Primary T cells from cord blood	blood
13	chr7:27644200-27655400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:27644400-27649200	Enhancers	Fetal Intestine Small	intestine
15	chr7:27644400-27658400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:27645000-27649000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:27645400-27655600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:27646000-27655200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:27646200-27649200	Enhancers	Fetal Intestine Large	intestine
20	chr7:27646200-27651800	Enhancers	Hela-S3	cervix
21	chr7:27646200-27655600	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:27646200-27657800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:27646400-27650800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:27646400-27650800	Weak transcription	NHDF-Ad	bronchial
25	chr7:27646400-27654800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:27646400-27655600	Weak transcription	Fetal Stomach	stomach
27	chr7:27646600-27648800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:27646600-27649200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:27646600-27649200	Enhancers	HUVEC	blood vessel
30	chr7:27646600-27656600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:27646600-27658400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:27646800-27649400	Enhancers	A549	lung
33	chr7:27646800-27650200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:27646800-27650400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:27646800-27655600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr7:27646800-27657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:27646800-27658800	Weak transcription	Osteobl	bone
38	chr7:27646800-27659600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr7:27647000-27648800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:27647000-27650400	Weak transcription	Fetal Lung	lung
41	chr7:27647000-27655800	Weak transcription	Ovary	ovary
42	chr7:27647000-27657200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:27647000-27660200	Weak transcription	Small Intestine	intestine
44	chr7:27647200-27649000	Enhancers	Liver	Liver
45	chr7:27647200-27650800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:27647200-27655600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:27647200-27655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:27647800-27649000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:27647800-27649000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:27648000-27648800	Genic enhancers	HSMM	muscle

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