Variant report

Variant	rs7769186
Chromosome Location	chr6:38555512-38555513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38542387..38543937-chr6:38555368..38558343,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAH8-9	chr6:38555099-38556305	NONHSAT112316

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12525759	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs16890826	0.83[JPT][hapmap]
rs16890840	0.89[JPT][hapmap]
rs1699006	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1699013	1.00[CEU][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1699015	0.85[CEU][hapmap]
rs1699018	0.85[CEU][hapmap]
rs1699020	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1739622	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1739625	0.83[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1781739	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1781740	0.85[CEU][hapmap]
rs1781741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1781742	0.88[CEU][hapmap]
rs2748166	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2748168	1.00[CEU][hapmap];0.83[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2748169	0.83[JPT][hapmap]
rs2814891	0.83[JPT][hapmap]
rs2814893	1.00[CEU][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6458060	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38523000-38571600	Weak transcription	HSMMtube	muscle
2	chr6:38534400-38561600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:38535600-38555800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:38535600-38556000	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:38535600-38556000	Weak transcription	NHLF	lung
6	chr6:38535600-38557600	Weak transcription	HSMM	muscle
7	chr6:38535800-38559800	Weak transcription	Fetal Lung	lung
8	chr6:38535800-38560200	Weak transcription	NH-A	brain
9	chr6:38535800-38564000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:38535800-38578200	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:38536200-38556000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:38536200-38559200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:38536400-38555800	Weak transcription	NHDF-Ad	bronchial
14	chr6:38536400-38560200	Weak transcription	Brain Angular Gyrus	brain
15	chr6:38536800-38566400	Weak transcription	Pancreas	Pancrea
16	chr6:38537000-38557200	Weak transcription	Thymus	Thymus
17	chr6:38538000-38566800	Weak transcription	Esophagus	oesophagus
18	chr6:38538200-38558600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:38538600-38561800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:38538600-38562000	Weak transcription	Brain Germinal Matrix	brain
21	chr6:38539800-38562800	Weak transcription	Fetal Thymus	thymus
22	chr6:38540400-38557800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:38540400-38560000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:38540400-38561600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr6:38540400-38567800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:38540400-38569200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:38540600-38559200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:38540600-38560000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:38541000-38565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:38541400-38568600	Weak transcription	Spleen	Spleen
31	chr6:38541600-38567000	Weak transcription	Small Intestine	intestine
32	chr6:38541800-38555600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:38542000-38563400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:38542200-38558800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr6:38542800-38560200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:38543400-38560200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr6:38544400-38560000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:38544600-38558800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr6:38545000-38556000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr6:38545000-38561400	Weak transcription	Psoas Muscle	Psoas
41	chr6:38545200-38555600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:38545400-38555600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:38545400-38566000	Weak transcription	Colonic Mucosa	Colon
44	chr6:38546200-38563800	Weak transcription	Gastric	stomach
45	chr6:38546600-38559800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:38547200-38556600	Weak transcription	HMEC	breast
47	chr6:38547400-38555600	Weak transcription	Fetal Intestine Large	intestine
48	chr6:38547400-38559200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:38547400-38560000	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:38547400-38565400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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