Variant report

Variant	rs11236181
Chromosome Location	chr11:74345823-74345824
allele	G/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	CTCF	chr11:74345800-74345950	AG10803	skin:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
2	CTCF	chr11:74345706-74345910	A549	lung:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
3	CTCF	chr11:74345680-74345830	HMEC	breast:	n/a	n/a
4	CTCF	chr11:74345760-74345910	HL-60	blood:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
5	CTCF	chr11:74345780-74345930	BE2_C	brain:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
6	CTCF	chr11:74345751-74345968	A549	lung:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
7	CTCF	chr11:74345780-74345930	Hela-S3	cervix:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
8	CTCF	chr11:74345756-74345986	GM12878	blood:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
9	CTCF	chr11:74345680-74346013	IMR90	lung:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
10	CTCF	chr11:74345740-74345890	HepG2	liver:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
11	CTCF	chr11:74345780-74345930	AoAF	blood vessel:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
12	CTCF	chr11:74345720-74345870	WERI-Rb-1	eye:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
13	CTCF	chr11:74345720-74345870	GM12867	blood:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
14	CTCF	chr11:74345653-74346051	K562	blood:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
15	CTCF	chr11:74345780-74345930	GM12874	blood:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
16	ZNF143	chr11:74345686-74345886	K562	blood:	n/a	n/a
17	TBL1XR1	chr11:74345686-74345825	K562	blood:	n/a	n/a
18	CTCF	chr11:74345720-74345870	SK-N-SH_RA	brain:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
19	CTCF	chr11:74345668-74345965	ECC-1	luminal epithelium:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
20	CTCF	chr11:74345715-74345919	HepG2	liver:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
21	CTCF	chr11:74345809-74345899	MCF-7	breast:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
22	CTCF	chr11:74345700-74345850	GM12869	blood:	n/a	n/a
23	CTCF	chr11:74345720-74345870	HFF	foreskin:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
24	CTCF	chr11:74345740-74345890	NHLF	lung:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
25	CTCF	chr11:74345760-74345910	Caco-2	colon:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
26	CTCF	chr11:74345800-74345950	MCF-7	breast:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
27	CTCF	chr11:74345740-74345890	HCT-116	colon:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
28	EP300	chr11:74345579-74345900	K562	blood:	n/a	n/a
29	RAD21	chr11:74345707-74346007	H1-hESC	embryonic stem cell:	n/a	chr11:74345842-74345861
30	CTCF	chr11:74345760-74345910	HRPEpiC	eye:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
31	CTCF	chr11:74345755-74345963	HepG2	liver:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
32	CTCF	chr11:74345780-74345930	HepG2	liver:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
33	CTCF	chr11:74345800-74345950	HPF	lung:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
34	CTCF	chr11:74345760-74345910	NHEK	skin:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
35	CTCF	chr11:74345551-74346006	MCF-7	breast:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
36	CTCF	chr11:74345652-74346102	K562	blood:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
37	STAT3	chr11:74345508-74346006	MCF10A-Er-Src	breast:	n/a	n/a
38	CTCF	chr11:74345262-74346307	A549	lung:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
39	CTCF	chr11:74345800-74345950	K562	blood:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
40	CTCF	chr11:74345760-74345910	HMF	breast:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
41	STAT3	chr11:74345592-74345852	MCF10A-Er-Src	breast:	n/a	n/a
42	CTCF	chr11:74345800-74345950	HCM	heart:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
43	SMC3	chr11:74345658-74346069	HepG2	liver:	n/a	chr11:74345843-74345857
44	MAFF	chr11:74345532-74345834	K562	blood:	n/a	n/a
45	NFIC	chr11:74345434-74345981	SK-N-SH	brain:	n/a	n/a
46	FOXA1	chr11:74345741-74345965	T-47D	breast:	n/a	n/a
47	STAT3	chr11:74345642-74345842	MCF10A-Er-Src	breast:	n/a	n/a
48	CTCF	chr11:74345740-74345890	HEEpiC	esophagus:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
49	CTCF	chr11:74345767-74345912	Kidney_OC	kidney:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864
50	CTCF	chr11:74345820-74345970	HUVEC	blood vessel:	n/a	chr11:74345841-74345859 chr11:74345842-74345858 chr11:74345843-74345864

No.	Distal block	Cell Line	Cell type
1	chr11:74345519..74346061-chr11:74413099..74414091,2	K562	blood:
2	chr11:74339791..74343200-chr11:74343975..74347157,5	MCF-7	breast:
3	chr11:74333645..74336411-chr11:74344978..74348426,3	K562	blood:
4	chr11:74345263..74346988-chr11:74412818..74415063,2	MCF-7	breast:
5	chr11:74345364..74346309-chr11:74437358..74438299,9	MCF-7	breast:
6	chr11:74343993..74348455-chr11:74350438..74354140,4	K562	blood:
7	chr11:74345737..74346270-chr11:74413100..74413774,2	MCF-7	breast:
8	chr11:74345424..74346152-chr11:74437689..74438208,2	MCF-7	breast:
9	chr11:74345782..74346309-chr11:74450577..74451426,2	MCF-7	breast:
10	chr11:74343839..74346032-chr11:74354471..74356643,2	K562	blood:
11	chr11:74345344..74346333-chr11:74437377..74438211,2	K562	blood:
12	chr11:74333645..74336229-chr11:74343900..74348454,4	K562	blood:

Variant related genes	Relation type
POLD3	TF binding region
ENSG00000077514	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10899014	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10899017	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10899019	0.85[CEU][hapmap]
rs10899021	0.87[ASW][hapmap];0.89[CEU][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10899022	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10899025	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11236171	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11236172	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11236174	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11236177	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11236180	0.89[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11236186	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11236190	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs11236193	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11236198	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11236201	0.87[EUR][1000 genomes]
rs11236202	0.83[EUR][1000 genomes]
rs11236211	0.81[EUR][1000 genomes]
rs12280434	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12287097	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12288525	0.85[EUR][1000 genomes]
rs12293317	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12296094	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12362729	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59958321	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61900635	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61900636	0.97[EUR][1000 genomes]
rs61901540	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61901541	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7102084	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7112384	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7112664	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122710	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7932194	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7935426	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11236181	CLNS1A	cis	parietal	SCAN
rs11236181	FCHSD2	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74304600-74373800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:74304800-74357800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:74304800-74361400	Weak transcription	Colonic Mucosa	Colon
4	chr11:74310200-74352400	Weak transcription	Fetal Brain Male	brain
5	chr11:74314000-74370200	Weak transcription	Psoas Muscle	Psoas
6	chr11:74317200-74352200	Weak transcription	Aorta	Aorta
7	chr11:74319200-74366000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:74321600-74364800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:74322200-74357400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:74323000-74356800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:74324400-74346600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:74325000-74346400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:74325000-74351600	Weak transcription	Right Ventricle	heart
14	chr11:74325200-74347000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:74325200-74351000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:74325400-74346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:74325600-74350600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:74329800-74346400	Weak transcription	Fetal Intestine Small	intestine
19	chr11:74330200-74346200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:74330200-74351600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:74331400-74346000	Weak transcription	HepG2	liver
22	chr11:74331400-74383400	Weak transcription	Brain Substantia Nigra	brain
23	chr11:74331600-74346200	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:74332200-74348800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:74332400-74346600	Weak transcription	Ovary	ovary
26	chr11:74335200-74356800	Strong transcription	Fetal Thymus	thymus
27	chr11:74335200-74357000	Strong transcription	Dnd41	blood
28	chr11:74336000-74354400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:74336200-74358200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:74336600-74354400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:74336800-74346800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:74336800-74353800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:74336800-74354600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:74337400-74346400	Weak transcription	Left Ventricle	heart
35	chr11:74337800-74353800	Strong transcription	Primary B cells from cord blood	blood
36	chr11:74339000-74346800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:74339200-74356000	Weak transcription	Fetal Heart	heart
38	chr11:74339400-74356000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:74340000-74348000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:74340000-74364200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:74340600-74351200	Weak transcription	HSMM	muscle
42	chr11:74341200-74347200	Weak transcription	NHDF-Ad	bronchial
43	chr11:74342200-74346200	Enhancers	Rectal Smooth Muscle	rectum
44	chr11:74342200-74346800	Enhancers	HMEC	breast
45	chr11:74342600-74346800	Weak transcription	HUVEC	blood vessel
46	chr11:74343000-74346600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:74343000-74354800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:74343200-74350200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:74343400-74346000	Enhancers	NHEK	skin
50	chr11:74343400-74349400	Strong transcription	HUES6 Cell Line	embryonic stem cell

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