Variant report

Variant	rs11236361
Chromosome Location	chr11:74872884-74872885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:74872430-74872992	HUVEC	blood vessel:	n/a	n/a
2	REST	chr11:74872605-74872950	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr11:74872623-74872952	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:74872513-74872907	HUVEC	blood vessel:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74868174..74871042-chr11:74871954..74874502,2	K562	blood:
2	chr11:74870955..74873792-chr11:74881314..74883069,2	K562	blood:
3	chr11:74868174..74870399-chr11:74871954..74873534,2	K562	blood:
4	chr11:74854253..74855928-chr11:74871794..74874336,2	MCF-7	breast:

No data

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

Extended variants
information (count: 42 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10793114	0.82[AMR][1000 genomes]
rs10899076	0.83[MEX][hapmap];0.82[AMR][1000 genomes]
rs10899078	0.86[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs10899079	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236348	0.81[AMR][1000 genomes]
rs11236349	0.81[AMR][1000 genomes]
rs11236350	0.83[MEX][hapmap];0.85[AMR][1000 genomes]
rs11236351	0.81[AMR][1000 genomes]
rs11236352	0.81[AMR][1000 genomes]
rs11236353	0.81[AMR][1000 genomes]
rs11236354	0.82[AMR][1000 genomes]
rs11236356	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11236357	0.86[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11236358	0.95[ASN][1000 genomes]
rs11236365	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs11822379	0.82[AMR][1000 genomes]
rs11827488	0.92[CEU][hapmap]
rs12361277	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12422149	0.81[JPT][hapmap]
rs17133732	0.88[CEU][hapmap]
rs3740839	0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4100076	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4397881	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944073	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944074	0.81[JPT][hapmap]
rs4944974	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs4944990	0.82[AMR][1000 genomes]
rs4944992	0.86[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs4944993	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944994	0.86[CHB][hapmap];0.87[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.92[MEX][hapmap];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57073688	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59633704	0.81[ASN][1000 genomes]
rs6592602	0.89[CEU][hapmap];0.92[TSI][hapmap]
rs67904312	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67947132	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7125268	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs72996586	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72998525	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs881217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs949069	0.91[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1054122	chr11:74872792-74895241	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11236361	FCHSD2	cis	cerebellum	SCAN
rs11236361	KCTD21	cis	cerebellum	SCAN
rs11236361	BTAF1	trans	cerebellum	SCAN
rs11236361	USP35	cis	cerebellum	SCAN
rs11236361	PGM2L1	cis	cerebellum	SCAN
rs11236361	GDPD4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74863600-74885600	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:74864200-74898400	Weak transcription	Esophagus	oesophagus
3	chr11:74866200-74873000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:74866400-74873000	Weak transcription	Fetal Thymus	thymus
5	chr11:74867400-74873200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:74867600-74875000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:74868600-74875200	Weak transcription	Ovary	ovary
8	chr11:74870000-74881000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:74870200-74873400	Enhancers	Adipose Nuclei	Adipose
10	chr11:74870400-74875000	Weak transcription	Small Intestine	intestine
11	chr11:74870800-74901600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:74871200-74873000	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:74871200-74873400	Enhancers	HUVEC	blood vessel
14	chr11:74871400-74875200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:74871400-74886800	Weak transcription	Brain Substantia Nigra	brain
16	chr11:74871600-74875000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:74871600-74875600	Enhancers	HepG2	liver
18	chr11:74871800-74873000	Weak transcription	Spleen	Spleen
19	chr11:74872200-74873000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:74872200-74873200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr11:74872200-74873400	Enhancers	Duodenum Mucosa	Duodenum
22	chr11:74872200-74885400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:74872400-74873400	Enhancers	Right Atrium	heart
24	chr11:74872400-74875400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:74872400-74876400	Enhancers	Placenta	Placenta
26	chr11:74872400-74883600	Genic enhancers	Fetal Intestine Small	intestine
27	chr11:74872600-74873200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:74872600-74873400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:74872600-74873400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:74872600-74873800	Enhancers	Colonic Mucosa	Colon
31	chr11:74872600-74874800	Enhancers	Stomach Mucosa	stomach
32	chr11:74872600-74877200	Enhancers	Fetal Muscle Leg	muscle
33	chr11:74872800-74873000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:74872800-74873200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:74872800-74873200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr11:74872800-74873400	Enhancers	Left Ventricle	heart
37	chr11:74872800-74873800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:74872800-74874000	Transcr. at gene 5' and 3'	Liver	Liver
39	chr11:74872800-74874000	Enhancers	Gastric	stomach
40	chr11:74872800-74874000	Enhancers	Lung	lung
41	chr11:74872800-74874000	Enhancers	Pancreas	Pancrea
42	chr11:74872800-74878200	Enhancers	Fetal Muscle Trunk	muscle
43	chr11:74872800-74878800	Genic enhancers	Fetal Intestine Large	intestine

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