Variant report

Variant	rs7750975
Chromosome Location	chr6:167452583-167452584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11557915	1.00[AMR][1000 genomes]
rs16899761	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16899805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16899816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16899817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2345567	1.00[AMR][1000 genomes]
rs6456145	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6899604	1.00[AMR][1000 genomes]
rs6900132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6901171	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6921037	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6922071	0.84[AFR][1000 genomes]
rs6926667	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6928981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6935539	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7754877	0.80[AFR][1000 genomes]
rs7759776	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7762128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs911634	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv464140	chr6:167426681-167492552	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv886943	chr6:167440244-167502638	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv2752099	chr6:167448181-167579102	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	esv3355616	chr6:167449662-167452760	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv519550	chr6:167450609-167473685	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167415400-167454000	Strong transcription	Fetal Thymus	thymus
2	chr6:167415400-167456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:167417200-167455400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:167417600-167454800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:167417800-167455200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:167423000-167457600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:167425600-167453000	Weak transcription	Brain Substantia Nigra	brain
8	chr6:167437400-167454200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:167438000-167456200	Strong transcription	Adipose Nuclei	Adipose
10	chr6:167439200-167454000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:167439600-167453200	Strong transcription	Fetal Intestine Small	intestine
12	chr6:167440400-167459400	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:167441000-167461800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:167441200-167454200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr6:167441200-167456600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:167441400-167455400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:167441400-167456200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:167441400-167473400	Weak transcription	Psoas Muscle	Psoas
19	chr6:167441600-167454200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:167441600-167454600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:167441600-167455600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:167441800-167456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:167443600-167453600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:167443800-167453400	Weak transcription	A549	lung
25	chr6:167444800-167456200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:167445600-167460200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:167447000-167453000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:167447200-167452800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:167447200-167454000	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr6:167447200-167456200	Strong transcription	HepG2	liver
31	chr6:167447400-167454000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:167447400-167455200	Strong transcription	Liver	Liver
33	chr6:167447600-167453000	Strong transcription	Fetal Stomach	stomach
34	chr6:167447600-167453000	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:167447600-167453600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:167447600-167454000	Strong transcription	Thymus	Thymus
37	chr6:167447600-167454200	Strong transcription	Fetal Intestine Large	intestine
38	chr6:167448000-167458400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:167448200-167454200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr6:167448200-167456000	Weak transcription	Right Ventricle	heart
41	chr6:167448200-167458200	Weak transcription	Colonic Mucosa	Colon
42	chr6:167448200-167459000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:167448200-167459800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr6:167448200-167467200	Weak transcription	HMEC	breast
45	chr6:167448400-167455200	Weak transcription	Brain Angular Gyrus	brain
46	chr6:167448400-167456400	Weak transcription	Hela-S3	cervix
47	chr6:167448400-167467200	Weak transcription	NHEK	skin
48	chr6:167448600-167454600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr6:167448800-167454400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr6:167448800-167460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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