Variant report

Variant	rs1874445
Chromosome Location	chr11:10691721-10691722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10689604..10691853-chr11:10718013..10720548,2	K562	blood:
2	chr11:10690159..10692528-chr11:10735582..10739094,3	MCF-7	breast:
3	chr11:10691286..10695244-chr11:10695981..10700197,4	MCF-7	breast:
4	chr11:10686058..10688524-chr11:10689302..10691752,2	MCF-7	breast:
5	chr11:10690084..10691721-chr11:10696494..10698749,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1035691	1.00[JPT][hapmap]
rs10770131	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10840457	1.00[JPT][hapmap]
rs11042902	1.00[JPT][hapmap]
rs11603178	1.00[JPT][hapmap]
rs1390571	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390575	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1462940	1.00[JPT][hapmap]
rs16908001	1.00[JPT][hapmap]
rs16927077	1.00[JPT][hapmap]
rs17318955	1.00[JPT][hapmap]
rs17403439	1.00[JPT][hapmap]
rs17403460	1.00[JPT][hapmap]
rs17403795	1.00[JPT][hapmap]
rs17403942	1.00[JPT][hapmap]
rs17403977	1.00[JPT][hapmap]
rs1863243	1.00[JPT][hapmap]
rs1863244	1.00[JPT][hapmap]
rs1863245	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874443	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979367	1.00[JPT][hapmap]
rs2098839	1.00[JPT][hapmap]
rs4025	1.00[JPT][hapmap]
rs41464450	1.00[JPT][hapmap]
rs4442541	1.00[JPT][hapmap]
rs4909945	1.00[JPT][hapmap]
rs4910160	1.00[JPT][hapmap]
rs4910165	1.00[JPT][hapmap]
rs733534	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940646	1.00[JPT][hapmap]
rs7947953	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7951153	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs881869	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890115	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903822	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903823	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs903824	0.88[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1874445	STK33	cis	parietal	SCAN
rs1874445	OR6A2	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10680600-10696200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:10683800-10692400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:10684400-10692000	Enhancers	Ovary	ovary
4	chr11:10686000-10692200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:10687200-10692000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:10687600-10691800	Enhancers	Osteobl	bone
7	chr11:10688000-10692200	Enhancers	HSMMtube	muscle
8	chr11:10688200-10691800	Enhancers	Brain Hippocampus Middle	brain
9	chr11:10688200-10692000	Enhancers	Adipose Nuclei	Adipose
10	chr11:10688200-10692200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:10688200-10692200	Enhancers	HSMM	muscle
12	chr11:10688400-10692200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr11:10688600-10695600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:10689000-10692400	Enhancers	Fetal Stomach	stomach
15	chr11:10689400-10695200	Weak transcription	Brain Substantia Nigra	brain
16	chr11:10690000-10692000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:10690000-10692000	Enhancers	Fetal Kidney	kidney
18	chr11:10690200-10691800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr11:10690200-10691800	Enhancers	Colonic Mucosa	Colon
20	chr11:10690200-10692000	Enhancers	Fetal Intestine Large	intestine
21	chr11:10690200-10692000	Enhancers	Fetal Muscle Leg	muscle
22	chr11:10690200-10692200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:10690400-10691800	Enhancers	A549	lung
24	chr11:10690400-10692000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:10690400-10692000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:10690400-10692000	Enhancers	Fetal Intestine Small	intestine
27	chr11:10690400-10692000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr11:10690400-10692000	Enhancers	Right Atrium	heart
29	chr11:10690400-10692000	Enhancers	Small Intestine	intestine
30	chr11:10690400-10692000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr11:10690400-10692200	Enhancers	Duodenum Mucosa	Duodenum
32	chr11:10690800-10691800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:10690800-10691800	Enhancers	K562	blood
34	chr11:10690800-10692000	Enhancers	Primary hematopoietic stem cells	blood
35	chr11:10690800-10692000	Enhancers	Fetal Lung	lung
36	chr11:10690800-10692000	Enhancers	Psoas Muscle	Psoas
37	chr11:10690800-10692200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:10691000-10691800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:10691000-10691800	Enhancers	Brain Anterior Caudate	brain
40	chr11:10691000-10691800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr11:10691000-10692000	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr11:10691000-10695400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:10691000-10695600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:10691000-10696000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr11:10691000-10696200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:10691000-10697200	Weak transcription	Stomach Mucosa	stomach
47	chr11:10691200-10691800	Enhancers	Right Ventricle	heart
48	chr11:10691200-10692000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:10691200-10692200	Enhancers	Aorta	Aorta
50	chr11:10691200-10692200	Enhancers	Brain Cingulate Gyrus	brain

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