Variant report

Variant	rs67904312
Chromosome Location	chr11:74863955-74863956
allele	A/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	MAFF	chr11:74863939-74864243	HepG2	liver:	n/a	chr11:74864065-74864083
2	MAFK	chr11:74863915-74864255	HepG2	liver:	n/a	chr11:74864070-74864081

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74860499..74862617-chr11:74862814..74864502,2	K562	blood:

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10793114	0.83[AMR][1000 genomes]
rs10899076	0.83[AMR][1000 genomes]
rs10899077	0.92[AMR][1000 genomes]
rs10899078	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10899079	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11236348	0.84[AMR][1000 genomes]
rs11236349	0.84[AMR][1000 genomes]
rs11236350	0.81[AMR][1000 genomes]
rs11236351	0.84[AMR][1000 genomes]
rs11236352	0.84[AMR][1000 genomes]
rs11236353	0.84[AMR][1000 genomes]
rs11236354	0.83[AMR][1000 genomes]
rs11236356	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236357	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11236358	0.93[ASN][1000 genomes]
rs11236361	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11822379	0.83[AMR][1000 genomes]
rs12361277	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3740839	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4100076	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4397881	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944073	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944074	0.80[AMR][1000 genomes]
rs4944990	0.83[AMR][1000 genomes]
rs4944991	0.92[AMR][1000 genomes]
rs4944992	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4944993	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944994	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57073688	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59633704	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61117837	0.81[ASN][1000 genomes]
rs67947132	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72996586	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72998525	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs881217	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	nsv897919	chr11:74862391-74875501	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74857400-74865600	Weak transcription	Small Intestine	intestine
2	chr11:74860000-74864000	Weak transcription	Spleen	Spleen
3	chr11:74861200-74868400	Active TSS	Brain Hippocampus Middle	brain
4	chr11:74861400-74864000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
5	chr11:74861400-74866000	Active TSS	Brain Anterior Caudate	brain
6	chr11:74861600-74864800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:74861600-74866200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:74861600-74867200	Active TSS	Brain Cingulate Gyrus	brain
9	chr11:74861800-74864600	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr11:74861800-74864800	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:74862000-74864600	Active TSS	Psoas Muscle	Psoas
12	chr11:74862000-74864800	Flanking Active TSS	Fetal Intestine Large	intestine
13	chr11:74862000-74864800	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr11:74862000-74864800	Flanking Active TSS	HepG2	liver
15	chr11:74862000-74865000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr11:74862000-74865200	Active TSS	Adipose Nuclei	Adipose
17	chr11:74862200-74864400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr11:74862200-74864400	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr11:74862200-74864400	Active TSS	Ovary	ovary
20	chr11:74862200-74864800	Active TSS	Brain Angular Gyrus	brain
21	chr11:74862200-74864800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr11:74862200-74864800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr11:74862200-74864800	Active TSS	Lung	lung
24	chr11:74862200-74865000	Active TSS	Right Atrium	heart
25	chr11:74862200-74866000	Active TSS	Brain Substantia Nigra	brain
26	chr11:74862400-74864600	Flanking Active TSS	Liver	Liver
27	chr11:74862600-74864400	Active TSS	Left Ventricle	heart
28	chr11:74862600-74865000	Enhancers	Stomach Mucosa	stomach
29	chr11:74862800-74864800	Flanking Active TSS	Right Ventricle	heart
30	chr11:74863000-74864000	Enhancers	Fetal Thymus	thymus
31	chr11:74863200-74864200	Active TSS	Esophagus	oesophagus
32	chr11:74863200-74864200	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr11:74863200-74865000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:74863400-74864000	Active TSS	Duodenum Mucosa	Duodenum
35	chr11:74863400-74864400	Enhancers	Fetal Stomach	stomach
36	chr11:74863400-74864800	Flanking Active TSS	Pancreas	Pancrea
37	chr11:74863600-74864200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
38	chr11:74863600-74864400	Weak transcription	Gastric	stomach
39	chr11:74863600-74864400	Bivalent Enhancer	HSMMtube	muscle
40	chr11:74863600-74865000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr11:74863600-74866000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:74863600-74866000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr11:74863600-74866200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:74863600-74885600	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:74863800-74864000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:74863800-74864000	Active TSS	Placenta	Placenta
47	chr11:74863800-74864000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr11:74863800-74864200	Flanking Active TSS	Colonic Mucosa	Colon

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