Variant report

Variant	rs6970578
Chromosome Location	chr7:27844038-27844039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27842369..27845574-chr7:27847275..27850626,3	K562	blood:
2	chr7:27835817..27837849-chr7:27841961..27844840,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10214930	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10230973	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10241783	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10250333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10268051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11764753	0.83[CEU][hapmap]
rs17155876	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17155971	1.00[YRI][hapmap]
rs1859328	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2057998	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2074580	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237338	0.88[JPT][hapmap]
rs2391485	0.93[ASN][1000 genomes]
rs28521509	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs42104	0.81[EUR][1000 genomes]
rs4481475	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4719906	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4722740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55837822	0.83[ASN][1000 genomes]
rs6462050	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462051	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948467	1.00[ASN][1000 genomes]
rs7776664	1.00[YRI][hapmap]
rs7800116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7807738	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs961724	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv5677	chr7:27839504-27884505	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1018550	chr7:27844038-27925645	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6970578	HIBADH	Cis_1M	lymphoblastoid	RTeQTL
rs6970578	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL
rs6970578	HIBADH	cis	lymphoblastoid	seeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
2	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:27790600-27857400	Weak transcription	Colonic Mucosa	Colon
4	chr7:27798600-27847800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
6	chr7:27801200-27851800	Weak transcription	Fetal Brain Male	brain
7	chr7:27801600-27852800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:27805800-27857600	Weak transcription	Esophagus	oesophagus
9	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
11	chr7:27815600-27874000	Weak transcription	Pancreas	Pancrea
12	chr7:27820400-27847400	Weak transcription	Fetal Heart	heart
13	chr7:27823800-27878000	Weak transcription	Spleen	Spleen
14	chr7:27824200-27876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr7:27825600-27848000	Weak transcription	NHLF	lung
16	chr7:27825600-27874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:27826000-27870000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:27826600-27852800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
20	chr7:27827600-27878400	Weak transcription	Fetal Kidney	kidney
21	chr7:27831200-27844800	Strong transcription	HSMM	muscle
22	chr7:27832600-27852800	Weak transcription	Lung	lung
23	chr7:27832600-27852800	Weak transcription	Thymus	Thymus
24	chr7:27832600-27856000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:27832800-27853200	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:27833000-27858000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:27833600-27856000	Weak transcription	Brain Anterior Caudate	brain
28	chr7:27833600-27858400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:27834200-27845600	Weak transcription	Brain Germinal Matrix	brain
30	chr7:27834200-27847800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:27834400-27873600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:27834800-27848000	Weak transcription	HMEC	breast
33	chr7:27834800-27855600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:27835000-27856000	Weak transcription	GM12878-XiMat	blood
35	chr7:27835200-27848000	Weak transcription	NHEK	skin
36	chr7:27835200-27856000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:27835200-27857600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:27835200-27878200	Weak transcription	Gastric	stomach
39	chr7:27835800-27847600	Weak transcription	NH-A	brain
40	chr7:27836000-27847600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:27836000-27847800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:27836000-27856400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:27836200-27847600	Weak transcription	HSMMtube	muscle
44	chr7:27836200-27848000	Weak transcription	K562	blood
45	chr7:27836400-27856000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr7:27836400-27856000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:27836400-27867400	Weak transcription	HUVEC	blood vessel
48	chr7:27836400-27878000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:27836400-27882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:27836600-27852600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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