Variant report

Variant	rs4714135
Chromosome Location	chr6:38216394-38216395
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	chr6:38210257..38213113-chr6:38213804..38216436,2	K562	blood:
2	chr6:38210095..38212639-chr6:38215015..38217311,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10484933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10947720	0.90[ASN][1000 genomes]
rs12524219	1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12529300	0.86[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12529640	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16890465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16890468	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16890511	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16890522	1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4711526	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4714137	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61686963	0.86[AFR][1000 genomes]
rs62397004	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62397007	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62397011	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62397015	0.90[AMR][1000 genomes]
rs6929505	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7739762	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38178000-38221600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:38178000-38221800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr6:38181400-38229400	Weak transcription	Fetal Intestine Small	intestine
4	chr6:38194400-38230200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:38204800-38229400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:38205200-38228800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:38207800-38229400	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:38208000-38221600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:38208000-38222400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:38208000-38226400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:38208200-38216400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:38208200-38216400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:38208200-38216400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:38208200-38222200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:38208200-38226000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:38208200-38227600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:38208200-38236600	Weak transcription	Gastric	stomach
18	chr6:38208200-38255000	Weak transcription	Ovary	ovary
19	chr6:38208600-38222400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:38209000-38229000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:38209200-38227000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:38209600-38221000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:38210800-38221000	Weak transcription	Primary B cells from cord blood	blood
24	chr6:38210800-38221200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:38211800-38221600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:38212000-38221600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:38213000-38220800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:38213000-38222000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:38213200-38216400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:38213200-38222800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:38213200-38223000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr6:38213400-38221600	Weak transcription	Esophagus	oesophagus
33	chr6:38213400-38221800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:38213400-38228800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:38213400-38232400	Weak transcription	Right Ventricle	heart
36	chr6:38215000-38222400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr6:38215200-38217400	Enhancers	Aorta	Aorta
38	chr6:38215200-38222800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:38215200-38229400	Weak transcription	Brain Angular Gyrus	brain
40	chr6:38215600-38216400	Weak transcription	Lung	lung
41	chr6:38215600-38217600	Weak transcription	Fetal Lung	lung
42	chr6:38215600-38221600	Weak transcription	Left Ventricle	heart
43	chr6:38215600-38229000	Weak transcription	Brain Substantia Nigra	brain
44	chr6:38216000-38216400	Strong transcription	Primary T cells from cord blood	blood
45	chr6:38216000-38216800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:38216000-38229000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:38216000-38238000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr6:38216200-38216400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:38216200-38216400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr6:38216200-38216600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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