Variant report

Variant	rs71434688
Chromosome Location	chr2:191081610-191081611
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	CTCF	chr2:191081580-191081730	HEK293	kidney:	n/a	chr2:191081647-191081656
2	NFIC	chr2:191081463-191082055	ECC-1	luminal epithelium:	n/a	chr2:191081819-191081836 chr2:191081819-191081835
3	RAD21	chr2:191081569-191081858	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr2:191081560-191081710	HCT-116	colon:	n/a	chr2:191081647-191081656
5	YY1	chr2:191081497-191081900	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr2:191081560-191081710	BE2_C	brain:	n/a	chr2:191081647-191081656
7	RAD21	chr2:191081475-191081864	H1-hESC	embryonic stem cell:	n/a	n/a
8	NFIC	chr2:191081503-191082010	ECC-1	luminal epithelium:	n/a	chr2:191081819-191081836 chr2:191081819-191081835
9	CTCF	chr2:191081580-191081730	HRPEpiC	eye:	n/a	chr2:191081647-191081656
10	CTCF	chr2:191081580-191081730	BE2_C	brain:	n/a	chr2:191081647-191081656
11	NANOG	chr2:191081555-191081782	H1-hESC	embryonic stem cell:	n/a	n/a
12	YY1	chr2:191081553-191081897	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr2:191081580-191081730	GM12872	blood:	n/a	chr2:191081647-191081656
14	CTCF	chr2:191081580-191081730	HepG2	liver:	n/a	chr2:191081647-191081656
15	CTCF	chr2:191081576-191081722	H1-hESC	embryonic stem cell:	n/a	chr2:191081647-191081656
16	CTCF	chr2:191081600-191081750	HCPEpiC	choroid plexus:	n/a	chr2:191081647-191081656
17	CTCF	chr2:191081540-191081690	SK-N-SH_RA	brain:	n/a	chr2:191081647-191081656
18	CTCF	chr2:191081597-191081686	MCF-7	breast:	n/a	chr2:191081647-191081656
19	SPI1	chr2:191081497-191081973	HL-60	blood:	n/a	chr2:191081722-191081735 chr2:191081723-191081736 chr2:191081725-191081734
20	CTCF	chr2:191081560-191081710	HA-sp	spinal cord:	n/a	chr2:191081647-191081656
21	ZNF143	chr2:191081471-191081851	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
HIBCH	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11883584	1.00[AMR][1000 genomes]
rs11889863	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11895650	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13023256	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34664133	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34816431	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34918997	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35366099	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35529089	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35530400	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35865039	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36038433	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57244571	1.00[AMR][1000 genomes]
rs60824447	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60857137	0.83[AMR][1000 genomes]
rs71434687	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs925296	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv875619	chr2:191062951-191112241	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv961920	chr2:191081112-191084662	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191046000-191088400	Weak transcription	HSMMtube	muscle
2	chr2:191046600-191086400	Weak transcription	Colonic Mucosa	Colon
3	chr2:191052000-191108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:191056800-191131800	Weak transcription	NHEK	skin
6	chr2:191057800-191087800	Weak transcription	Fetal Brain Female	brain
7	chr2:191060000-191107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:191060200-191090600	Weak transcription	A549	lung
9	chr2:191060600-191084000	Weak transcription	HUVEC	blood vessel
10	chr2:191060600-191087800	Weak transcription	Brain Germinal Matrix	brain
11	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
12	chr2:191061000-191089200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:191062400-191107800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:191062800-191088000	Weak transcription	Fetal Brain Male	brain
15	chr2:191062800-191088600	Weak transcription	Spleen	Spleen
16	chr2:191063200-191083400	Weak transcription	Lung	lung
17	chr2:191064600-191084400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:191065000-191084400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:191065000-191086600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:191065000-191087800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:191065000-191088600	Weak transcription	Esophagus	oesophagus
22	chr2:191065000-191088800	Weak transcription	Gastric	stomach
23	chr2:191065200-191086400	Weak transcription	Brain Angular Gyrus	brain
24	chr2:191065600-191088200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:191067400-191085600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr2:191067400-191086400	Weak transcription	Stomach Mucosa	stomach
27	chr2:191067600-191109200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:191069800-191087600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:191070800-191083600	Weak transcription	Adipose Nuclei	Adipose
30	chr2:191071000-191085800	Weak transcription	NHDF-Ad	bronchial
31	chr2:191071200-191088000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:191073200-191109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:191074600-191082400	Weak transcription	Fetal Intestine Large	intestine
34	chr2:191075600-191088000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:191076200-191107200	Weak transcription	GM12878-XiMat	blood
36	chr2:191077000-191083200	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:191077000-191083200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:191077000-191083600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:191077000-191084000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:191077000-191085200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:191077000-191088800	Weak transcription	Brain Substantia Nigra	brain
42	chr2:191077000-191106800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:191077200-191100200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:191077600-191083400	Weak transcription	HepG2	liver
45	chr2:191077600-191083600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:191077800-191085000	Weak transcription	Dnd41	blood
47	chr2:191078000-191082000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:191078400-191083600	Weak transcription	Liver	Liver
49	chr2:191078400-191088200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:191078600-191082000	Enhancers	HUES48 Cell Line	embryonic stem cell

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