Variant report

Variant	rs58307585
Chromosome Location	chr2:171925897-171925898
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	POLR2A	chr2:171924872-171926457	GM12878	blood:	n/a	n/a
2	STAT3	chr2:171925812-171926412	MCF10A-Er-Src	breast:	n/a	chr2:171925910-171925921
3	STAT3	chr2:171925811-171926416	MCF10A-Er-Src	breast:	n/a	chr2:171925910-171925921
4	POLR2A	chr2:171925714-171925995	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr2:171925754-171926149	MCF-7	breast:	n/a	chr2:171925963-171925974
6	STAT3	chr2:171925812-171926369	MCF10A-Er-Src	breast:	n/a	chr2:171925910-171925921
7	STAT3	chr2:171925769-171926417	MCF10A-Er-Src	breast:	n/a	chr2:171925910-171925921
8	CEBPB	chr2:171925845-171926304	K562	blood:	n/a	chr2:171925963-171925974
9	CEBPB	chr2:171925821-171926071	MCF-7	breast:	n/a	chr2:171925963-171925974
10	CEBPB	chr2:171925887-171926369	HepG2	liver:	n/a	chr2:171925963-171925974
11	FOS	chr2:171925874-171926455	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr2:171925842-171926458	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr2:171925832-171926139	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171920035..171922996-chr2:171924584..171926973,3	K562	blood:

Variant related genes	Relation type
TLK1	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10490606	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823191	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859087	0.86[AFR][1000 genomes]
rs16859121	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs16859137	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859167	0.81[AMR][1000 genomes]
rs16859176	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2356600	0.84[AMR][1000 genomes]
rs2356609	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2883940	0.86[AFR][1000 genomes]
rs55644524	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs55885449	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs55939429	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs55995602	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55997598	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56004444	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56155163	0.85[AMR][1000 genomes]
rs56155601	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56191582	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56308745	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56382502	0.84[AMR][1000 genomes]
rs56934523	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs57173242	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57733560	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58028937	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs58685348	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs59841744	0.85[AMR][1000 genomes]
rs60396936	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs60730419	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6736045	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6746133	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs73013435	0.81[AMR][1000 genomes]
rs73013436	0.81[AMR][1000 genomes]
rs73017249	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73027271	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73029214	0.84[AMR][1000 genomes]
rs73976285	0.81[AMR][1000 genomes]
rs7604392	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9752051	0.86[AMR][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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
2	chr2:171862800-171931200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:171878000-171943200	Weak transcription	Small Intestine	intestine
4	chr2:171878800-171940000	Weak transcription	Stomach Mucosa	stomach
5	chr2:171892400-171943400	Weak transcription	Spleen	Spleen
6	chr2:171898200-171928800	Weak transcription	Fetal Stomach	stomach
7	chr2:171898200-171946200	Weak transcription	Pancreas	Pancrea
8	chr2:171900000-171940000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:171900200-171936400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:171900200-171937800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:171900400-171975400	Weak transcription	Aorta	Aorta
12	chr2:171903000-171940000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:171905800-171939200	Weak transcription	HSMMtube	muscle
14	chr2:171907800-171942800	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:171908200-171928400	Weak transcription	Fetal Kidney	kidney
16	chr2:171908200-171932200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:171911600-171943200	Weak transcription	NH-A	brain
18	chr2:171912400-171937400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:171916400-171932200	Weak transcription	K562	blood
20	chr2:171916600-171928000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:171916600-171930800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:171916600-171940000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:171916600-171944600	Weak transcription	Lung	lung
24	chr2:171916600-171950200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:171916600-171970800	Weak transcription	Ovary	ovary
26	chr2:171916800-171926000	Weak transcription	A549	lung
27	chr2:171916800-171928800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:171916800-171935200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:171916800-171942200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:171916800-171943200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:171917000-171926000	Weak transcription	NHEK	skin
32	chr2:171917000-171927000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:171917000-171927400	Weak transcription	Primary T cells from cord blood	blood
34	chr2:171917000-171928400	Weak transcription	Thymus	Thymus
35	chr2:171917000-171928600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:171917000-171932000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:171917000-171934600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:171917000-171937200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:171917000-171940400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:171917000-171942600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:171917000-171942800	Weak transcription	Adipose Nuclei	Adipose
42	chr2:171917000-171942800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:171917000-171942800	Weak transcription	Gastric	stomach
44	chr2:171917000-171942800	Weak transcription	Left Ventricle	heart
45	chr2:171917000-171943000	Weak transcription	Osteobl	bone
46	chr2:171917000-171943200	Weak transcription	Fetal Lung	lung
47	chr2:171917000-171946200	Weak transcription	Psoas Muscle	Psoas
48	chr2:171917000-171948000	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:171917000-171953200	Weak transcription	HSMM	muscle
50	chr2:171917000-171956600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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