Variant report

Variant	rs11174438
Chromosome Location	chr12:62744936-62744937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62744670..62747434-chr12:62749938..62751775,3	K562	blood:
2	chr12:62744561..62747048-chr12:62754909..62756695,2	K562	blood:
3	chr12:62742990..62745783-chr12:62746371..62748692,4	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10431509	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10431510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10431565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10506440	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs10747958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10784292	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs10877819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10877824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877826	0.81[ASN][1000 genomes]
rs10877829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10877831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10877834	0.81[JPT][hapmap]
rs11174397	0.81[JPT][hapmap]
rs11174398	0.81[JPT][hapmap]
rs11174401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11174404	0.95[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11174408	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11174411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11174412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11174416	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11174417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11174420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11174423	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174424	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174431	0.81[ASN][1000 genomes]
rs11174433	0.90[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11174435	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174436	0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs11174437	0.84[ASN][1000 genomes]
rs11174449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11174458	0.81[JPT][hapmap]
rs11504121	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11504122	0.83[ASN][1000 genomes]
rs11561463	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11830242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11836268	0.81[ASN][1000 genomes]
rs12228015	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12229271	0.83[ASN][1000 genomes]
rs12231778	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12297474	0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs12299072	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12306066	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12307900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12310651	0.81[ASN][1000 genomes]
rs12311259	0.83[ASN][1000 genomes]
rs12311279	0.81[JPT][hapmap]
rs12317437	0.83[ASN][1000 genomes]
rs12318287	0.81[ASN][1000 genomes]
rs1376342	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1496859	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1901239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2131434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2132651	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2242032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs28526400	0.81[ASN][1000 genomes]
rs35634758	0.88[ASN][1000 genomes]
rs6581444	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7132814	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7133294	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7137068	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7295013	0.81[JPT][hapmap]
rs7302033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7302617	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7309209	0.81[JPT][hapmap]
rs767391	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7953967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7965326	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7976058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7976608	0.81[JPT][hapmap]
rs902971	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv899153	chr12:62716330-62817736	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv1803510	chr12:62729782-62802643	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62698600-62745800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:62700000-62757000	Weak transcription	HUVEC	blood vessel
3	chr12:62701600-62769200	Weak transcription	NHEK	skin
4	chr12:62712200-62755400	Weak transcription	Small Intestine	intestine
5	chr12:62717000-62750200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:62717000-62769200	Weak transcription	Fetal Kidney	kidney
7	chr12:62717000-62777000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:62717000-62783200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:62717000-62784600	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:62717200-62752600	Weak transcription	HepG2	liver
11	chr12:62717200-62756800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:62717200-62778400	Weak transcription	Hela-S3	cervix
13	chr12:62725400-62747000	Weak transcription	A549	lung
14	chr12:62725600-62749000	Weak transcription	HMEC	breast
15	chr12:62727200-62753000	Weak transcription	HSMMtube	muscle
16	chr12:62729200-62753000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:62729800-62776800	Weak transcription	HSMM	muscle
18	chr12:62730000-62763800	Weak transcription	Psoas Muscle	Psoas
19	chr12:62735600-62758600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:62737600-62757000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:62737600-62784600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:62737600-62786600	Weak transcription	NHLF	lung
23	chr12:62737800-62747200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:62737800-62748800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:62737800-62750000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:62737800-62780200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:62738000-62754800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:62738200-62777000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:62738200-62787400	Weak transcription	Spleen	Spleen
30	chr12:62738200-62790600	Weak transcription	Esophagus	oesophagus
31	chr12:62738400-62748600	Weak transcription	K562	blood
32	chr12:62738400-62757400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:62738600-62750200	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:62738600-62752600	Weak transcription	Right Ventricle	heart
35	chr12:62738600-62755000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:62738600-62759600	Weak transcription	Fetal Lung	lung
37	chr12:62738600-62763800	Weak transcription	Left Ventricle	heart
38	chr12:62738600-62783400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:62738800-62749800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:62738800-62752400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:62738800-62752600	Weak transcription	Fetal Intestine Large	intestine
42	chr12:62738800-62756600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:62738800-62766000	Weak transcription	Aorta	Aorta
44	chr12:62738800-62769000	Weak transcription	Placenta	Placenta
45	chr12:62738800-62784000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:62738800-62789600	Weak transcription	Ovary	ovary
47	chr12:62738800-62792800	Weak transcription	Lung	lung
48	chr12:62739000-62748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:62739000-62752800	Weak transcription	Brain Germinal Matrix	brain
50	chr12:62739000-62761000	Weak transcription	Fetal Stomach	stomach

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