Variant report

Variant	rs4944990
Chromosome Location	chr11:74858213-74858214
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:74858156-74859222	SK-N-SH	brain:	n/a	chr11:74858397-74858410
2	GATA2	chr11:74858060-74858983	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:74850392..74852587-chr11:74855694..74858278,2	MCF-7	breast:
2	chr11:74855408..74858303-chr11:74861375..74864283,3	K562	blood:
3	chr11:74856309..74859040-chr11:74914787..74916343,2	MCF-7	breast:
4	chr11:74851665..74854336-chr11:74855499..74858438,2	MCF-7	breast:
5	chr11:74856690..74858303-chr11:74861317..74863016,2	K562	blood:
6	chr11:74856790..74858510-chr11:74872953..74874736,2	K562	blood:

Variant related genes	Relation type
SLCO2B1	TF binding region
ENSG00000137491	Chromatin interaction
ENSG00000255395	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10793114	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899076	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899077	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899078	0.95[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10899079	0.82[AMR][1000 genomes]
rs11236348	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236349	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236350	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236351	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236352	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236353	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11236354	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11236356	0.81[CHB][hapmap]
rs11236357	0.95[CEU][hapmap];0.91[CHB][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11236361	0.82[AMR][1000 genomes]
rs11236365	0.86[EUR][1000 genomes]
rs11822379	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17133732	0.80[JPT][hapmap]
rs4100076	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4397881	0.81[CHB][hapmap]
rs4944073	0.83[AMR][1000 genomes]
rs4944074	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs4944974	0.81[CHB][hapmap]
rs4944975	0.95[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap]
rs4944991	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944992	0.95[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4944993	0.81[CHB][hapmap];0.83[AMR][1000 genomes]
rs4944994	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57073688	0.82[AMR][1000 genomes]
rs59633704	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592602	0.81[JPT][hapmap]
rs67904312	0.83[AMR][1000 genomes]
rs67947132	0.81[AMR][1000 genomes]
rs7125268	0.87[EUR][1000 genomes]
rs72996586	0.83[AMR][1000 genomes]
rs881217	0.81[AMR][1000 genomes]
rs949069	0.85[CEU][hapmap];0.87[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv526053	chr11:74857436-74861545	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74852000-74861600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:74852400-74861000	Weak transcription	Stomach Mucosa	stomach
3	chr11:74853800-74860200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr11:74853800-74862000	Enhancers	HepG2	liver
5	chr11:74853800-74862200	Enhancers	Placenta	Placenta
6	chr11:74854000-74862000	Enhancers	Fetal Intestine Large	intestine
7	chr11:74854400-74858400	Weak transcription	Left Ventricle	heart
8	chr11:74854400-74858400	Weak transcription	Right Atrium	heart
9	chr11:74854400-74858400	Weak transcription	Right Ventricle	heart
10	chr11:74855200-74862200	Enhancers	Fetal Intestine Small	intestine
11	chr11:74855600-74861200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:74855600-74861600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:74855800-74858400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:74855800-74858800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:74855800-74858800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:74856000-74858400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:74856000-74858800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:74856200-74860200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr11:74856400-74859200	Enhancers	K562	blood
20	chr11:74856400-74859600	Enhancers	Colonic Mucosa	Colon
21	chr11:74856600-74858600	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:74856600-74863400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:74857000-74859400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:74857000-74860000	Enhancers	Adipose Nuclei	Adipose
25	chr11:74857400-74858600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr11:74857400-74859000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:74857400-74865600	Weak transcription	Small Intestine	intestine
28	chr11:74857600-74859200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:74857800-74859000	Enhancers	Brain Anterior Caudate	brain
30	chr11:74857800-74859000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:74857800-74859800	Enhancers	Lung	lung
32	chr11:74857800-74860000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:74857800-74860000	Enhancers	Fetal Muscle Leg	muscle
34	chr11:74858000-74860000	Enhancers	Fetal Thymus	thymus
35	chr11:74858200-74858400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr11:74858200-74858800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr11:74858200-74859000	Enhancers	Liver	Liver
38	chr11:74858200-74859000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr11:74858200-74859200	Bivalent Enhancer	Fetal Stomach	stomach
40	chr11:74858200-74859400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:74858200-74859400	Enhancers	Esophagus	oesophagus
42	chr11:74858200-74860000	Enhancers	Spleen	Spleen
43	chr11:74858200-74861400	Enhancers	Duodenum Mucosa	Duodenum

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