Variant report

Variant	rs10499231
Chromosome Location	chr6:144861946-144861947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144860540..144863082-chr6:144868271..144870923,2	K562	blood:
2	chr6:144860787..144863095-chr6:144885052..144886553,2	K562	blood:
3	chr6:144854161..144860088-chr6:144861624..144865343,8	K562	blood:
4	chr6:144861308..144862983-chr6:144863413..144866263,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12195433	0.81[CEU][hapmap]
rs12205822	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs1358433	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2091485	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2876586	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3793134	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3793135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3812245	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812246	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4499947	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4896729	0.96[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6570637	0.96[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6915747	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7739143	0.80[CEU][hapmap];0.81[TSI][hapmap]
rs7749805	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7749957	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7754789	0.96[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7767389	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7770106	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7770800	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9376822	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9390171	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9390173	0.97[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs9399478	0.96[CEU][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9399479	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9496995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9497006	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs951571	0.92[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144803400-144869800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:144807400-144904000	Weak transcription	Brain Substantia Nigra	brain
3	chr6:144812400-144881000	Weak transcription	Stomach Mucosa	stomach
4	chr6:144812600-144869800	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:144815200-144881000	Weak transcription	NHEK	skin
6	chr6:144816600-144881400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:144829800-144863800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:144831400-144879000	Strong transcription	Primary B cells from cord blood	blood
9	chr6:144832400-144862200	Weak transcription	Small Intestine	intestine
10	chr6:144833800-144868200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:144837200-144880800	Weak transcription	Brain Angular Gyrus	brain
12	chr6:144844400-144870000	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:144850000-144864200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:144850000-144864200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:144850200-144877400	Weak transcription	HMEC	breast
16	chr6:144850400-144864000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:144850400-144864200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:144850400-144865600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:144850400-144866000	Weak transcription	Hela-S3	cervix
20	chr6:144850400-144903200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:144850400-144903200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:144850400-144904200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:144850600-144862200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:144850600-144863400	Weak transcription	Fetal Intestine Small	intestine
25	chr6:144850600-144863600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:144850600-144865800	Weak transcription	NHLF	lung
27	chr6:144850600-144870800	Weak transcription	Right Ventricle	heart
28	chr6:144850600-144881600	Weak transcription	Brain Anterior Caudate	brain
29	chr6:144850800-144863600	Weak transcription	Colonic Mucosa	Colon
30	chr6:144852200-144862000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:144852400-144862000	Weak transcription	Spleen	Spleen
32	chr6:144852400-144870600	Weak transcription	Aorta	Aorta
33	chr6:144853600-144863400	Weak transcription	Lung	lung
34	chr6:144853600-144896400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:144853800-144863600	Weak transcription	Fetal Stomach	stomach
36	chr6:144854000-144863400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:144854400-144862800	Weak transcription	Gastric	stomach
38	chr6:144854400-144864200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:144854400-144873400	Weak transcription	Pancreas	Pancrea
40	chr6:144854600-144862400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:144854600-144870000	Weak transcription	NH-A	brain
42	chr6:144854600-144881200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:144855600-144862000	Weak transcription	HUVEC	blood vessel
44	chr6:144855600-144863600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:144856000-144862400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:144856000-144875800	Weak transcription	Fetal Heart	heart
47	chr6:144857200-144904000	Weak transcription	Psoas Muscle	Psoas
48	chr6:144857400-144862200	Weak transcription	GM12878-XiMat	blood
49	chr6:144858200-144867400	Strong transcription	Liver	Liver
50	chr6:144858200-144887800	Strong transcription	Primary B cells from peripheral blood	blood

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