Variant report

Variant	rs3814071
Chromosome Location	chr6:45867872-45867873
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1128514	0.83[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297834	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34208595	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34522587	0.97[EUR][1000 genomes]
rs34866782	0.87[EUR][1000 genomes]
rs35143374	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35448663	0.87[EUR][1000 genomes]
rs35489689	0.87[EUR][1000 genomes]
rs3777562	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs4714887	0.98[ASN][1000 genomes]
rs4714888	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6458476	0.88[EUR][1000 genomes]
rs6458477	0.88[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs67715157	0.97[EUR][1000 genomes]
rs67919193	0.94[EUR][1000 genomes]
rs6911790	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6918415	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935445	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6937735	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7746554	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773041	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296473	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9969032	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9969070	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45863400-45869600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:45865000-45868400	Weak transcription	Osteobl	bone
3	chr6:45865000-45870000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:45865200-45870000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:45865200-45870000	Weak transcription	HSMMtube	muscle
6	chr6:45865400-45868400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:45865400-45870000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:45865600-45868400	Weak transcription	NHDF-Ad	bronchial
9	chr6:45865600-45868800	Weak transcription	Right Ventricle	heart
10	chr6:45866200-45868000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:45866200-45871000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:45866400-45880000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:45866600-45868000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:45866600-45870000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:45866600-45898400	Weak transcription	Colonic Mucosa	Colon
16	chr6:45866800-45868600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:45866800-45869200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:45867000-45868200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:45867000-45869200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:45867000-45869200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:45867000-45869400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:45867000-45869800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:45867000-45869800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:45867000-45871200	Strong transcription	Fetal Intestine Small	intestine
25	chr6:45867200-45868600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:45867200-45868600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr6:45867200-45870200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr6:45867400-45868200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr6:45867400-45869000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:45867400-45870000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:45867400-45870400	Genic enhancers	Left Ventricle	heart
32	chr6:45867600-45868600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:45867600-45868600	Weak transcription	Fetal Muscle Leg	muscle
34	chr6:45867600-45868600	Weak transcription	Psoas Muscle	Psoas
35	chr6:45867600-45868600	Weak transcription	Right Atrium	heart
36	chr6:45867600-45869800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr6:45867600-45870200	Weak transcription	Placenta	Placenta
38	chr6:45867800-45869200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:45867800-45870000	Weak transcription	Brain Germinal Matrix	brain
40	chr6:45867800-45870600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:45867800-45871000	Strong transcription	Fetal Intestine Large	intestine
42	chr6:45867800-45884200	Weak transcription	Fetal Heart	heart

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