Variant report

Variant	rs808607
Chromosome Location	chr6:4861305-4861306
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	chr6:4794008..4795795-chr6:4859936..4861465,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R3G-3	chr6:4861221-4861321	NONHSAT107491

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1016877	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11967994	0.86[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs11968021	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1265332	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1265333	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1265334	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1265335	0.94[ASW][hapmap];0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13199417	1.00[CHB][hapmap]
rs13212871	1.00[CHB][hapmap]
rs17138856	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs17138859	0.91[CHB][hapmap]
rs17138959	1.00[CHB][hapmap]
rs17138966	1.00[CHB][hapmap]
rs184588	0.94[ASW][hapmap];0.86[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1891045	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2179270	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2326553	1.00[CHB][hapmap]
rs233476	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3748078	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4960046	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62386574	0.82[EUR][1000 genomes]
rs62386576	0.83[EUR][1000 genomes]
rs62386577	0.83[EUR][1000 genomes]
rs62386591	0.81[EUR][1000 genomes]
rs62386593	0.86[EUR][1000 genomes]
rs62386594	0.86[EUR][1000 genomes]
rs62386612	0.87[EUR][1000 genomes]
rs62386614	0.89[EUR][1000 genomes]
rs6918626	0.81[TSI][hapmap]
rs73362560	0.83[EUR][1000 genomes]
rs808593	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs808598	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs808600	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs808606	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808608	0.89[EUR][1000 genomes]
rs808635	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs811251	1.00[CHB][hapmap]
rs9502250	0.89[CHB][hapmap]
rs9504254	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9504284	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4844800-4863000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:4847400-4871000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:4849000-4863000	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:4849200-4861400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:4849200-4863200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:4849200-4865400	Weak transcription	Aorta	Aorta
7	chr6:4849400-4862400	Weak transcription	Fetal Kidney	kidney
8	chr6:4849600-4861400	Weak transcription	Placenta	Placenta
9	chr6:4849800-4863800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:4849800-4868000	Weak transcription	Hela-S3	cervix
11	chr6:4854000-4870400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:4854400-4861400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:4854400-4861600	Weak transcription	Fetal Thymus	thymus
14	chr6:4854400-4861800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:4854400-4870800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:4854600-4863200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:4854600-4871200	Weak transcription	NH-A	brain
18	chr6:4854800-4863200	Weak transcription	Primary T cells from cord blood	blood
19	chr6:4855000-4861600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:4855200-4862000	Weak transcription	Fetal Intestine Small	intestine
21	chr6:4855200-4882200	Weak transcription	Fetal Stomach	stomach
22	chr6:4856800-4861400	Weak transcription	Right Atrium	heart
23	chr6:4856800-4865400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:4856800-4883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:4857000-4861400	Weak transcription	Lung	lung
26	chr6:4858800-4880400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:4859000-4861400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:4859000-4861400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:4859000-4876600	Weak transcription	Ovary	ovary
30	chr6:4859200-4867800	Weak transcription	A549	lung
31	chr6:4859400-4861400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr6:4859400-4861400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr6:4859400-4863000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:4859600-4861400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr6:4859600-4861400	Weak transcription	Psoas Muscle	Psoas
36	chr6:4859600-4861600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr6:4859600-4862000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:4859600-4864400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:4859600-4870200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:4859600-4870800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:4859600-4871200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:4859800-4861400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:4859800-4861400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:4859800-4861400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:4859800-4861400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:4859800-4861800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr6:4859800-4862000	Weak transcription	Stomach Mucosa	stomach
48	chr6:4859800-4862400	Weak transcription	Brain Anterior Caudate	brain
49	chr6:4859800-4865400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:4859800-4870800	Weak transcription	NHEK	skin

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