Variant report

Variant	rs72849815
Chromosome Location	chr6:38183752-38183753
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10947715	1.00[ASN][1000 genomes]
rs10947719	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11751630	1.00[ASN][1000 genomes]
rs11967006	0.86[EUR][1000 genomes]
rs12202202	0.96[EUR][1000 genomes]
rs12215376	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17757975	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1931760	0.98[EUR][1000 genomes]
rs1931761	0.97[EUR][1000 genomes]
rs56020526	0.97[EUR][1000 genomes]
rs56064162	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72849820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72849852	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462399	1.00[ASN][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:49 , 50 per page) page: 1

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	chr6:38177600-38189200	Weak transcription	Gastric	stomach
6	chr6:38178000-38221600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:38178000-38221800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:38178400-38186200	Weak transcription	Aorta	Aorta
9	chr6:38178800-38187800	Weak transcription	Pancreas	Pancrea
10	chr6:38179600-38183800	Enhancers	Brain Hippocampus Middle	brain
11	chr6:38179800-38187800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:38180000-38184600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr6:38180800-38187800	Weak transcription	Esophagus	oesophagus
14	chr6:38181000-38207600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:38181400-38189000	Weak transcription	Brain Germinal Matrix	brain
16	chr6:38181400-38191200	Weak transcription	Ovary	ovary
17	chr6:38181400-38195200	Weak transcription	Colonic Mucosa	Colon
18	chr6:38181400-38202600	Weak transcription	Fetal Stomach	stomach
19	chr6:38181400-38229400	Weak transcription	Fetal Intestine Small	intestine
20	chr6:38181600-38187800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:38182200-38185200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:38182200-38194000	Weak transcription	Lung	lung
23	chr6:38182400-38184200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr6:38182400-38186400	Weak transcription	Right Atrium	heart
25	chr6:38182400-38187400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:38182400-38187400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:38182600-38183800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:38182600-38184000	Weak transcription	Left Ventricle	heart
29	chr6:38182800-38183800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:38182800-38184200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:38183000-38184200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:38183000-38184200	Enhancers	HSMM	muscle
33	chr6:38183000-38184400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr6:38183200-38183800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:38183200-38184200	Enhancers	Psoas Muscle	Psoas
36	chr6:38183200-38195200	Weak transcription	Fetal Brain Male	brain
37	chr6:38183400-38184000	Enhancers	Brain Substantia Nigra	brain
38	chr6:38183400-38184200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:38183400-38184200	Enhancers	HSMMtube	muscle
40	chr6:38183400-38184600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:38183400-38184800	Enhancers	GM12878-XiMat	blood
42	chr6:38183400-38187200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:38183400-38187400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:38183400-38187400	Weak transcription	Brain Angular Gyrus	brain
45	chr6:38183400-38187800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:38183400-38188600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:38183600-38183800	Enhancers	Right Ventricle	heart
48	chr6:38183600-38187400	Weak transcription	Brain Anterior Caudate	brain
49	chr6:38183600-38194000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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