Variant report

Variant	rs17613082
Chromosome Location	chr7:27820612-27820613
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27818847..27822042-chr7:27822389..27826371,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10951174	0.94[CEU][hapmap]
rs10951186	0.83[CEU][hapmap]
rs11520772	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12155171	0.81[EUR][1000 genomes]
rs12531244	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs12531907	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs12532737	0.83[EUR][1000 genomes]
rs12537135	0.83[EUR][1000 genomes]
rs12700847	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs13224500	0.85[EUR][1000 genomes]
rs13227574	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs13231645	0.93[CEU][hapmap]
rs13232561	0.93[CEU][hapmap]
rs13236065	0.82[EUR][1000 genomes]
rs13237769	0.86[EUR][1000 genomes]
rs13247831	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1544413	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1544414	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17155954	0.81[CEU][hapmap]
rs17613350	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34594641	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35105727	0.82[EUR][1000 genomes]
rs35232956	0.82[EUR][1000 genomes]
rs35536764	0.80[EUR][1000 genomes]
rs35801744	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35971552	0.83[EUR][1000 genomes]
rs36057260	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36114463	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4391326	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4455744	0.85[EUR][1000 genomes]
rs57088391	0.84[EUR][1000 genomes]
rs6944455	0.80[EUR][1000 genomes]
rs6963753	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs6968631	0.82[EUR][1000 genomes]
rs6969043	0.82[EUR][1000 genomes]
rs6969207	0.82[EUR][1000 genomes]
rs71539544	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs739898	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17613082	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
2	chr7:27784800-27834000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:27785000-27825000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:27787600-27825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:27787800-27826600	Weak transcription	Small Intestine	intestine
7	chr7:27790600-27825000	Weak transcription	NHLF	lung
8	chr7:27790600-27835000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:27790600-27857400	Weak transcription	Colonic Mucosa	Colon
10	chr7:27792200-27825000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:27792200-27825000	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:27792400-27822600	Weak transcription	HSMMtube	muscle
13	chr7:27792800-27825200	Weak transcription	Lung	lung
14	chr7:27798600-27822200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:27798600-27847800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
17	chr7:27801200-27825200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:27801200-27851800	Weak transcription	Fetal Brain Male	brain
19	chr7:27801400-27831400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:27801400-27838400	Weak transcription	Fetal Brain Female	brain
21	chr7:27801600-27852800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:27801800-27825200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:27802800-27826200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr7:27804600-27824400	Weak transcription	Fetal Intestine Small	intestine
25	chr7:27805800-27825200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:27805800-27832200	Weak transcription	Fetal Stomach	stomach
27	chr7:27805800-27857600	Weak transcription	Esophagus	oesophagus
28	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:27806400-27825000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
31	chr7:27806600-27825200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:27806600-27827800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:27810200-27825000	Weak transcription	HepG2	liver
34	chr7:27810400-27831600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:27810400-27831600	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:27810600-27824800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:27810800-27831600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:27811000-27825000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:27811200-27832200	Weak transcription	Ovary	ovary
40	chr7:27811200-27833600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:27811400-27822600	Weak transcription	HMEC	breast
42	chr7:27811400-27825000	Weak transcription	Fetal Kidney	kidney
43	chr7:27811400-27825000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:27811400-27825200	Weak transcription	Fetal Muscle Leg	muscle
45	chr7:27811400-27825200	Weak transcription	Thymus	Thymus
46	chr7:27811400-27831200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:27811600-27822200	Weak transcription	NHDF-Ad	bronchial
48	chr7:27811600-27822600	Weak transcription	Hela-S3	cervix
49	chr7:27811600-27824800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:27811600-27824800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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