Variant report

Variant	rs12290239
Chromosome Location	chr11:74705302-74705303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74704735..74707299-chr11:74968333..74971046,2	K562	blood:
2	chr11:74703562..74705361-chr11:74717138..74719834,2	K562	blood:
3	chr11:74698148..74702654-chr11:74704592..74707989,9	K562	blood:
4	chr11:74699150..74702264-chr11:74702825..74705414,3	MCF-7	breast:
5	chr11:74704465..74706580-chr11:74709652..74711304,2	K562	blood:

Variant related genes	Relation type
ENSG00000162139	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10501418	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10501421	1.00[CHB][hapmap]
rs11236247	0.85[AMR][1000 genomes]
rs11236259	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11236293	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271211	0.85[AMR][1000 genomes]
rs12271960	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12275050	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275056	0.85[AMR][1000 genomes]
rs12278314	1.00[CEU][hapmap]
rs12283412	1.00[CEU][hapmap]
rs12286482	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12288052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs12289885	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12292428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295546	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13343191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs1439677	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133760	1.00[CHB][hapmap]
rs7111955	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72992687	1.00[ASN][1000 genomes]
rs72994528	1.00[ASN][1000 genomes]
rs73490680	0.85[AMR][1000 genomes]
rs73490691	0.85[AMR][1000 genomes]
rs73498736	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73498737	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928010	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7947726	1.00[CHB][hapmap]
rs9943586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]

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	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74700400-74716400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74700400-74723000	Weak transcription	Small Intestine	intestine
3	chr11:74700600-74705600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:74700600-74705600	Weak transcription	Gastric	stomach
5	chr11:74700600-74705600	Weak transcription	Lung	lung
6	chr11:74700600-74716400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:74700600-74716400	Weak transcription	Aorta	Aorta
8	chr11:74700600-74716400	Weak transcription	Esophagus	oesophagus
9	chr11:74700600-74716400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:74700600-74716600	Weak transcription	Fetal Brain Male	brain
11	chr11:74700600-74722600	Weak transcription	HSMM	muscle
12	chr11:74700600-74725000	Weak transcription	HSMMtube	muscle
13	chr11:74700800-74705400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:74700800-74705400	Weak transcription	Brain Germinal Matrix	brain
15	chr11:74700800-74705400	Weak transcription	Brain Substantia Nigra	brain
16	chr11:74700800-74705400	Weak transcription	Fetal Brain Female	brain
17	chr11:74700800-74705400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:74700800-74705600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:74700800-74705600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:74700800-74705600	Weak transcription	Brain Angular Gyrus	brain
21	chr11:74700800-74705600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:74700800-74705600	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:74700800-74705600	Weak transcription	Fetal Stomach	stomach
24	chr11:74700800-74705600	Weak transcription	Ovary	ovary
25	chr11:74700800-74705600	Weak transcription	Spleen	Spleen
26	chr11:74700800-74705800	Weak transcription	Placenta	Placenta
27	chr11:74700800-74716400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:74700800-74716400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:74700800-74716400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:74700800-74716400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:74700800-74716400	Weak transcription	NHLF	lung
32	chr11:74700800-74716600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:74701000-74705400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:74701000-74705400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:74701000-74705400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:74701000-74705400	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:74701000-74705600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:74701000-74705600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:74701000-74705600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:74701000-74705600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:74701000-74705600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:74701000-74705600	Weak transcription	Brain Anterior Caudate	brain
43	chr11:74701000-74705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:74701000-74705600	Weak transcription	Right Ventricle	heart
45	chr11:74701000-74705600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:74701000-74705800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:74701000-74705800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:74701000-74705800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:74701000-74705800	Weak transcription	Fetal Lung	lung
50	chr11:74701000-74705800	Weak transcription	Rectal Mucosa Donor 31	rectum

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