Variant report

Variant	rs2395695
Chromosome Location	chr6:38180548-38180549
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	chr6:38178185..38180709-chr6:38183811..38185746,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1931762	1.00[CHB][hapmap]
rs1931765	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1931766	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050161	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395696	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4299828	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4711527	0.94[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4714128	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4714129	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714130	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4714131	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4714132	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4714133	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6458045	0.94[CEU][hapmap]
rs6458047	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66634926	0.87[AMR][1000 genomes]
rs6904507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6915783	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6917654	0.94[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6924088	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6930118	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6935617	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs726160	1.00[JPT][hapmap]
rs7738411	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs873316	1.00[JPT][hapmap]
rs9380722	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9380724	0.94[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9462416	1.00[JPT][hapmap]
rs9470833	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv522522	chr6:38131442-38207636	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	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
7	nsv885819	chr6:38148770-38190439	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv520053	chr6:38154941-38207636	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38160800-38201400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:38166800-38194800	Weak transcription	Primary B cells from cord blood	blood
3	chr6:38167000-38210400	Weak transcription	Primary T cells from cord blood	blood
4	chr6:38176000-38184800	Enhancers	Fetal Muscle Leg	muscle
5	chr6:38176200-38181400	Enhancers	Fetal Stomach	stomach
6	chr6:38177600-38189200	Weak transcription	Gastric	stomach
7	chr6:38178000-38221600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:38178000-38221800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:38178400-38186200	Weak transcription	Aorta	Aorta
10	chr6:38178800-38187800	Weak transcription	Pancreas	Pancrea
11	chr6:38179400-38180600	Enhancers	Fetal Brain Female	brain
12	chr6:38179400-38181400	Enhancers	Brain Germinal Matrix	brain
13	chr6:38179400-38181400	Enhancers	Stomach Smooth Muscle	stomach
14	chr6:38179400-38182400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:38179400-38182800	Enhancers	Colon Smooth Muscle	Colon
16	chr6:38179400-38183000	Enhancers	Brain Substantia Nigra	brain
17	chr6:38179400-38183400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:38179400-38183400	Enhancers	Brain Cingulate Gyrus	brain
19	chr6:38179600-38180800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:38179600-38180800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:38179600-38181000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr6:38179600-38181000	Enhancers	Spleen	Spleen
23	chr6:38179600-38181200	Enhancers	Lung	lung
24	chr6:38179600-38181400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr6:38179600-38181400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:38179600-38181600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:38179600-38182200	Enhancers	Adipose Nuclei	Adipose
28	chr6:38179600-38182400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:38179600-38183400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:38179600-38183600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:38179600-38183600	Enhancers	Brain Anterior Caudate	brain
32	chr6:38179600-38183800	Enhancers	Brain Hippocampus Middle	brain
33	chr6:38179800-38180800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:38179800-38180800	Enhancers	Esophagus	oesophagus
35	chr6:38179800-38180800	Enhancers	Fetal Muscle Trunk	muscle
36	chr6:38179800-38181000	Enhancers	Fetal Brain Male	brain
37	chr6:38179800-38181000	Enhancers	Fetal Lung	lung
38	chr6:38179800-38181000	Enhancers	Left Ventricle	heart
39	chr6:38179800-38181200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:38179800-38181200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr6:38179800-38181400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:38179800-38181400	Enhancers	Ovary	ovary
43	chr6:38179800-38181600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:38179800-38182400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:38179800-38182400	Enhancers	Right Atrium	heart
46	chr6:38179800-38182600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:38179800-38183400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:38179800-38183400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:38179800-38187800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:38180000-38180600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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