Variant report

Variant	rs12363422
Chromosome Location	chr11:10697390-10697391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10589192..10591636-chr11:10696263..10698924,2	K562	blood:
2	chr11:10691286..10695244-chr11:10695981..10700197,4	MCF-7	breast:
3	chr11:10690084..10691721-chr11:10696494..10698749,2	K562	blood:

Variant related genes	Relation type
ENSG00000133800	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10770130	0.87[ASN][1000 genomes]
rs10770132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770133	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840458	0.87[ASN][1000 genomes]
rs10840459	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10840460	0.85[ASN][1000 genomes]
rs10840461	0.85[ASN][1000 genomes]
rs10840462	0.85[ASN][1000 genomes]
rs10840463	0.85[ASN][1000 genomes]
rs10840464	0.85[ASN][1000 genomes]
rs10840465	0.85[ASN][1000 genomes]
rs10840466	0.85[ASN][1000 genomes]
rs10840467	0.84[ASN][1000 genomes]
rs10840468	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042910	0.88[EUR][1000 genomes]
rs11042911	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11042913	0.85[ASN][1000 genomes]
rs11512010	0.87[EUR][1000 genomes]
rs12420672	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420675	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390572	0.85[ASN][1000 genomes]
rs1390573	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1425149	0.85[ASN][1000 genomes]
rs1425150	0.85[ASN][1000 genomes]
rs1425151	0.85[ASN][1000 genomes]
rs1544862	0.85[ASN][1000 genomes]
rs1544863	0.85[ASN][1000 genomes]
rs16908157	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908159	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16908162	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1845832	0.85[ASN][1000 genomes]
rs1874444	0.85[ASN][1000 genomes]
rs1895712	0.85[ASN][1000 genomes]
rs2098840	0.86[ASN][1000 genomes]
rs34554801	0.95[ASN][1000 genomes]
rs35040034	0.85[ASN][1000 genomes]
rs35165550	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243916	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4909946	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4910164	0.88[EUR][1000 genomes]
rs4910166	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs722274	0.85[ASN][1000 genomes]
rs745336	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs750540	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7925193	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7933525	0.85[ASN][1000 genomes]
rs7938027	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7939662	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939686	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881870	0.90[ASN][1000 genomes]
rs903825	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903826	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903827	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903828	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv832063	chr11:10618485-10785281	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2753762	chr11:10688217-10701438	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv7676	chr11:10689144-10734139	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10694400-10697600	Enhancers	Primary hematopoietic stem cells	blood
2	chr11:10694400-10698000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:10694600-10698400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:10694600-10698800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:10695000-10698000	Enhancers	NHLF	lung
6	chr11:10695200-10697400	Enhancers	Brain Angular Gyrus	brain
7	chr11:10695200-10697400	Enhancers	Brain Substantia Nigra	brain
8	chr11:10695400-10697400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr11:10695400-10699000	Enhancers	Spleen	Spleen
10	chr11:10695600-10697400	Genic enhancers	Fetal Stomach	stomach
11	chr11:10695600-10697400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr11:10695600-10697600	Enhancers	Brain Anterior Caudate	brain
13	chr11:10695600-10697600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr11:10695600-10697600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:10695600-10698600	Enhancers	Lung	lung
16	chr11:10695600-10698800	Enhancers	Left Ventricle	heart
17	chr11:10695800-10697400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr11:10695800-10697600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
19	chr11:10695800-10697600	Enhancers	Right Atrium	heart
20	chr11:10696000-10697400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:10696200-10697400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:10696200-10697400	Enhancers	Ovary	ovary
23	chr11:10696200-10697800	Enhancers	Right Ventricle	heart
24	chr11:10696400-10697600	Enhancers	Brain Cingulate Gyrus	brain
25	chr11:10696400-10698800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:10696600-10697600	Enhancers	Brain Hippocampus Middle	brain
27	chr11:10696600-10697600	Enhancers	Small Intestine	intestine
28	chr11:10696600-10698600	Enhancers	Psoas Muscle	Psoas
29	chr11:10696600-10699600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:10696800-10697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:10696800-10697600	Enhancers	Fetal Thymus	thymus
32	chr11:10696800-10697800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:10696800-10702600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:10697000-10697400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:10697000-10697400	Enhancers	Rectal Smooth Muscle	rectum
36	chr11:10697000-10697400	Enhancers	HSMMtube	muscle
37	chr11:10697000-10697600	Enhancers	Duodenum Mucosa	Duodenum
38	chr11:10697000-10697800	Enhancers	Aorta	Aorta
39	chr11:10697000-10699400	Enhancers	Adipose Nuclei	Adipose
40	chr11:10697000-10699400	Enhancers	NHDF-Ad	bronchial
41	chr11:10697000-10700800	Weak transcription	Fetal Lung	lung
42	chr11:10697000-10713200	Weak transcription	Gastric	stomach
43	chr11:10697200-10697400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:10697200-10697400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:10697200-10697400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:10697200-10697400	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr11:10697200-10697400	Enhancers	Stomach Mucosa	stomach
48	chr11:10697200-10697600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr11:10697200-10697600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:10697200-10697600	Enhancers	Colonic Mucosa	Colon

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