Variant report

Variant	rs9485168
Chromosome Location	chr6:147688087-147688088
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147685432..147688337-chr6:147695787..147697611,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10080610	0.93[AFR][1000 genomes]
rs1034245	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs17076672	0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs17076679	0.98[AFR][1000 genomes]
rs17076691	0.98[AFR][1000 genomes]
rs17076702	1.00[AFR][1000 genomes]
rs34181841	1.00[AFR][1000 genomes]
rs55691000	0.83[AFR][1000 genomes]
rs55758181	0.88[AFR][1000 genomes]
rs56837006	0.90[AFR][1000 genomes]
rs58570586	0.98[AFR][1000 genomes]
rs58756001	0.87[AFR][1000 genomes]
rs58831496	0.83[AFR][1000 genomes]
rs60225993	0.98[AFR][1000 genomes]
rs60412958	0.88[AFR][1000 genomes]
rs60969570	0.83[AFR][1000 genomes]
rs61078293	1.00[AFR][1000 genomes]
rs73787171	0.95[AFR][1000 genomes]
rs73787179	0.88[AFR][1000 genomes]
rs73788818	0.83[AFR][1000 genomes]
rs73788820	0.83[AFR][1000 genomes]
rs73788821	0.83[AFR][1000 genomes]
rs73788836	0.83[AFR][1000 genomes]
rs73788839	0.83[AFR][1000 genomes]
rs73788842	0.83[AFR][1000 genomes]
rs73788844	0.83[AFR][1000 genomes]
rs9322096	0.91[YRI][hapmap];0.98[AFR][1000 genomes]
rs9322097	1.00[AFR][1000 genomes]
rs9322098	0.95[AFR][1000 genomes]
rs9485157	0.98[AFR][1000 genomes]
rs9485158	0.98[AFR][1000 genomes]
rs9485160	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs9485161	0.98[AFR][1000 genomes]
rs9485163	0.98[AFR][1000 genomes]
rs9485164	0.87[AFR][1000 genomes]
rs9485169	1.00[AFR][1000 genomes]
rs9497727	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs9497733	0.93[AFR][1000 genomes]
rs9497735	0.93[AFR][1000 genomes]
rs9497737	0.98[AFR][1000 genomes]
rs9497739	0.98[AFR][1000 genomes]
rs9497742	0.98[AFR][1000 genomes]
rs9497744	0.98[AFR][1000 genomes]
rs9497745	1.00[AFR][1000 genomes]
rs9497746	0.98[AFR][1000 genomes]
rs9497749	0.98[AFR][1000 genomes]
rs9497750	0.98[AFR][1000 genomes]
rs9497755	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9497756	1.00[AFR][1000 genomes]
rs9497758	0.92[AFR][1000 genomes]
rs9497760	1.00[AFR][1000 genomes]
rs9885707	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	21 gene(s)	inside rSNPs	diseases
2	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active 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	7 gene(s)	inside rSNPs	diseases
4	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1832155	chr6:147554900-147715464	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv886755	chr6:147577646-147729477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv886756	chr6:147580697-147729477	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv830839	chr6:147584914-147757264	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv886757	chr6:147591022-147729477	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv1016430	chr6:147662541-147711882	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv1022283	chr6:147663541-147700720	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv886759	chr6:147686274-147764267	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:147619200-147690200	Weak transcription	Fetal Heart	heart
4	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
5	chr6:147626000-147700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:147626400-147700000	Weak transcription	Brain Germinal Matrix	brain
8	chr6:147631400-147707200	Weak transcription	Hela-S3	cervix
9	chr6:147642800-147705000	Weak transcription	HepG2	liver
10	chr6:147644200-147704000	Weak transcription	GM12878-XiMat	blood
11	chr6:147645200-147715000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:147649000-147705000	Weak transcription	Fetal Brain Male	brain
13	chr6:147649600-147703800	Weak transcription	Fetal Stomach	stomach
14	chr6:147649600-147706000	Weak transcription	Fetal Kidney	kidney
15	chr6:147649600-147711800	Weak transcription	Colonic Mucosa	Colon
16	chr6:147649800-147708000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:147650200-147706400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:147655000-147707800	Weak transcription	Esophagus	oesophagus
19	chr6:147668200-147698600	Weak transcription	Aorta	Aorta
20	chr6:147668200-147708000	Weak transcription	NHEK	skin
21	chr6:147669400-147699600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:147675000-147688200	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr6:147675000-147688400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:147677600-147688600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:147677800-147688200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:147677800-147688400	Strong transcription	K562	blood
27	chr6:147677800-147688600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:147678000-147688200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr6:147678200-147688600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:147678600-147705200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:147679000-147688200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr6:147679000-147702000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:147679000-147707400	Weak transcription	Brain Substantia Nigra	brain
34	chr6:147679400-147688200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr6:147679400-147688400	Strong transcription	Osteobl	bone
36	chr6:147679400-147689800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:147680200-147688400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:147680400-147707600	Weak transcription	Gastric	stomach
39	chr6:147680400-147707600	Weak transcription	Small Intestine	intestine
40	chr6:147680400-147710600	Weak transcription	Pancreas	Pancrea
41	chr6:147680400-147721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:147680600-147694600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr6:147680600-147698600	Weak transcription	Fetal Intestine Small	intestine
44	chr6:147680600-147707600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:147680600-147707800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr6:147681600-147688200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:147681600-147688200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:147681800-147688200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:147683200-147688400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr6:147684000-147688200	Strong transcription	Primary monocytes fromperipheralblood	blood

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