Variant report

Variant	rs17133760
Chromosome Location	chr11:74870295-74870296
allele	C/T
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	REST	chr11:74870023-74870308	H1-hESC	embryonic stem cell:	n/a	chr11:74870176-74870185
2	RAD21	chr11:74870114-74870359	HepG2	liver:	n/a	n/a
3	CTCF	chr11:74870160-74870310	HepG2	liver:	n/a	chr11:74870221-74870229
4	ZEB1	chr11:74869894-74871663	HepG2	liver:	n/a	chr11:74870947-74870954 chr11:74871208-74871215 chr11:74870972-74870979
5	HDAC2	chr11:74870207-74871034	HepG2	liver:	n/a	n/a
6	CTCF	chr11:74870038-74870360	H1-hESC	embryonic stem cell:	n/a	chr11:74870221-74870229 chr11:74870144-74870157
7	RAD21	chr11:74870119-74870315	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr11:74870020-74870331	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:74870114-74871065	HepG2	liver:	n/a	n/a
10	RAD21	chr11:74870103-74870388	HepG2	liver:	n/a	n/a
11	SMC3	chr11:74870062-74870309	HepG2	liver:	n/a	chr11:74870220-74870228
12	CTCF	chr11:74870086-74870316	HepG2	liver:	n/a	chr11:74870221-74870229 chr11:74870144-74870157
13	CTCF	chr11:74870160-74870310	K562	blood:	n/a	chr11:74870221-74870229
14	CTCF	chr11:74870180-74870330	WERI-Rb-1	eye:	n/a	chr11:74870221-74870229
15	RAD21	chr11:74869945-74870446	H1-hESC	embryonic stem cell:	n/a	n/a
16	HNF4A	chr11:74870023-74871177	HepG2	liver:	n/a	chr11:74870808-74870820 chr11:74870806-74870821 chr11:74870806-74870821 chr11:74870807-74870820 chr11:74870807-74870821 chr11:74870806-74870821 chr11:74870808-74870820 chr11:74870807-74870819 chr11:74870806-74870821 chr11:74870806-74870821 chr11:74870808-74870821 chr11:74870808-74870821 chr11:74870808-74870821 chr11:74870803-74870825 chr11:74870807-74870815 chr11:74870805-74870823 chr11:74870808-74870820 chr11:74870806-74870821 chr11:74870808-74870820

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:74870268-74870318	HAEpiC	amniotic membrane:	n/a
2	chr11:74870268-74870318	CMK	blood:	n/a
3	chr11:74870268-74870318	SK-N-SH_RA	brain:	n/a
4	chr11:74870268-74870318	HCT-116	colon:	n/a
5	chr11:74870268-74870318	PFSK-1	brain:	n/a
6	chr11:74870268-74870318	GM06990	blood:	n/a
7	chr11:74870268-74870318	SKMC	muscle:	n/a
8	chr11:74870268-74870318	BE2_C	brain:	n/a
9	chr11:74870268-74870318	GM12878	blood:	n/a
10	chr11:74870268-74870318	HMEC	breast:	n/a
11	chr11:74870268-74870318	AoSMC	blood vessel:	n/a
12	chr11:74870268-74870318	SK-N-SH	brain:	n/a
13	chr11:74870268-74870318	HL-60	blood:	n/a
14	chr11:74870268-74870318	LNCaP	prostate:	n/a
15	chr11:74870268-74870318	AG04450	lung:	fetal
16	chr11:74870268-74870318	RPTEC	kidney:	n/a
17	chr11:74870268-74870318	HNPCEpiC	eye:	n/a
18	chr11:74870268-74870318	NHDF-neo	bronchial:	n/a
19	chr11:74870268-74870318	PrEC	prostate:	n/a
20	chr11:74870268-74870318	HEEpiC	esophagus:	n/a
21	chr11:74870268-74870318	HCPEpiC	choroid plexus:	n/a
22	chr11:74870268-74870318	NT2-D1	testis:	n/a
23	chr11:74870268-74870318	PANC-1	pancreas:	n/a
24	chr11:74870268-74870318	SAEC	small airway:	n/a
25	chr11:74870268-74870318	K562	blood:	n/a
26	chr11:74870268-74870318	Hela-S3	cervix:	n/a
27	chr11:74870268-74870318	NH-A	brain:	n/a
28	chr11:74870268-74870318	U87	brain:	n/a
29	chr11:74870268-74870318	HRPEpiC	eye:	n/a
30	chr11:74870268-74870318	AG09319	gingival:	n/a
31	chr11:74870268-74870318	AG04449	skin:	fetal
32	chr11:74870268-74870318	Caco-2	colon:	n/a
33	chr11:74870268-74870318	HIPEpiC	eye:	n/a
34	chr11:74870268-74870318	GM12892	blood:	n/a
35	chr11:74870268-74870318	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:74870268-74870318	AG10803	skin:	n/a
37	chr11:74870268-74870318	MCF-7	breast:	n/a
38	chr11:74870268-74870318	NB4	blood:	n/a
39	chr11:74870268-74870318	HRE	kidney:	n/a
40	chr11:74870268-74870318	SK-N-MC	brain:	n/a
41	chr11:74870268-74870318	ovcar-3	ovarian:	n/a
42	chr11:74870268-74870318	A549	lung:	n/a
43	chr11:74870268-74870318	T-47D	breast:	n/a
44	chr11:74870268-74870318	Jurkat	blood:	n/a
45	chr11:74870268-74870318	HEK293	kidney:	embryo
46	chr11:74870268-74870318	Hepatocyte	liver:	n/a
47	chr11:74870268-74870318	HRCEpiC	kidney:	n/a
48	chr11:74870268-74870318	ECC-1	luminal epithelium:	n/a
49	chr11:74870268-74870318	AG09309	skin:	n/a
50	chr11:74870268-74870318	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:74868174..74870399-chr11:74871954..74873534,2	K562	blood:
2	chr11:74869846..74870366-chr11:74959734..74960273,2	MCF-7	breast:
3	chr11:74869678..74870459-chr11:74915424..74916683,3	MCF-7	breast:

Variant related genes	Relation type
SLCO2B1	TF binding region
SLCO2B1	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10501421	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12273852	1.00[CHB][hapmap]
rs12289885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs12290239	1.00[CHB][hapmap]
rs12292428	1.00[CHB][hapmap]
rs12295546	1.00[CHB][hapmap]
rs17133809	0.82[CEU][hapmap]
rs7110250	0.82[CEU][hapmap]
rs7111955	1.00[CHB][hapmap]
rs72994528	0.82[EUR][1000 genomes]
rs765823	0.82[CEU][hapmap]
rs765824	0.82[CEU][hapmap]
rs7947726	1.00[CHB][hapmap];1.00[CHD][hapmap]

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:44 , 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	chr11:74864800-74870400	Enhancers	Fetal Intestine Large	intestine
4	chr11:74865000-74872000	Enhancers	Placenta	Placenta
5	chr11:74866200-74873000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:74866400-74871000	Weak transcription	Spleen	Spleen
7	chr11:74866400-74873000	Weak transcription	Fetal Thymus	thymus
8	chr11:74866800-74870400	Weak transcription	Left Ventricle	heart
9	chr11:74867400-74870800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:74867400-74870800	Weak transcription	A549	lung
11	chr11:74867400-74873200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:74867600-74870400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:74867600-74870400	Weak transcription	Right Atrium	heart
14	chr11:74867600-74870800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:74867600-74875000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:74867800-74870400	Enhancers	HepG2	liver
17	chr11:74868600-74870400	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:74868600-74870800	Weak transcription	Fetal Stomach	stomach
19	chr11:74868600-74875200	Weak transcription	Ovary	ovary
20	chr11:74868800-74870600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:74869200-74870400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:74869400-74870400	Genic enhancers	Fetal Intestine Small	intestine
23	chr11:74869600-74870400	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr11:74869600-74871000	Enhancers	Stomach Mucosa	stomach
25	chr11:74869600-74871200	Genic enhancers	Lung	lung
26	chr11:74869600-74871400	Enhancers	Brain Anterior Caudate	brain
27	chr11:74869800-74870800	Weak transcription	Brain Substantia Nigra	brain
28	chr11:74869800-74871200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:74869800-74871200	Enhancers	Brain Hippocampus Middle	brain
30	chr11:74869800-74871600	Enhancers	Fetal Muscle Trunk	muscle
31	chr11:74869800-74871800	Enhancers	Gastric	stomach
32	chr11:74869800-74871800	Enhancers	Pancreas	Pancrea
33	chr11:74869800-74872200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr11:74870000-74870400	Enhancers	Small Intestine	intestine
35	chr11:74870000-74870800	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
36	chr11:74870000-74871600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:74870000-74872800	Flanking Active TSS	Liver	Liver
38	chr11:74870000-74881000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr11:74870200-74870400	Genic enhancers	Right Ventricle	heart
40	chr11:74870200-74871400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:74870200-74871600	Flanking Active TSS	Colonic Mucosa	Colon
42	chr11:74870200-74871600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr11:74870200-74871600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:74870200-74873400	Enhancers	Adipose Nuclei	Adipose

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