Variant report

Variant	rs1235156
Chromosome Location	chr2:190628811-190628812
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:190628720-190628870	HepG2	liver:	n/a	n/a
2	CTCF	chr2:190628760-190628910	AG04449	skin:	n/a	n/a
3	CTCF	chr2:190628803-190628877	K562	blood:	n/a	n/a
4	SMC3	chr2:190628735-190629012	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr2:190628720-190628870	GM12865	blood:	n/a	n/a
6	CTCF	chr2:190628740-190628890	HMF	breast:	n/a	n/a
7	POLR2A	chr2:190628654-190628834	MCF10A-Er-Src	breast:	n/a	n/a
8	CTCF	chr2:190628674-190629075	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:190627247-190629363	K562	blood:	n/a	n/a
10	POLR2A	chr2:190626991-190629517	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr2:190628762-190628924	Medullo	brain:	n/a	n/a
12	CTCF	chr2:190628701-190629015	IMR90	lung:	n/a	n/a
13	CTCF	chr2:190628720-190628870	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr2:190628760-190628910	AG10803	skin:	n/a	n/a
15	CTCF	chr2:190628800-190628950	AG04450	lung:	n/a	n/a
16	CTCF	chr2:190628720-190628870	AG10803	skin:	n/a	n/a
17	ZNF384	chr2:190628709-190628902	GM12878	blood:	n/a	n/a
18	RAD21	chr2:190628712-190629031	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr2:190628800-190628950	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr2:190628740-190628890	AG09319	gingival:	n/a	n/a
21	POLR2A	chr2:190626742-190629362	GM12878	blood:	n/a	n/a
22	CTCF	chr2:190628760-190628910	MCF-7	breast:	n/a	n/a
23	CTCF	chr2:190628760-190628910	AG09319	gingival:	n/a	n/a
24	POLR2A	chr2:190626813-190629360	GM12891	blood:	n/a	n/a
25	CTCF	chr2:190628800-190628950	HMF	breast:	n/a	n/a
26	CTCF	chr2:190628780-190628930	GM12878	blood:	n/a	n/a
27	CTCF	chr2:190628760-190628910	NHDF-neo	bronchial:	n/a	n/a
28	CTCF	chr2:190628780-190628930	WI-38	lung:	n/a	n/a
29	POLR2A	chr2:190628810-190628812	HepG2	liver:	n/a	n/a
30	CTCF	chr2:190628760-190628910	HPF	lung:	n/a	n/a
31	POLR2A	chr2:190628612-190629166	SK-N-SH	brain:	n/a	n/a
32	RAD21	chr2:190628719-190629026	IMR90	lung:	n/a	n/a
33	CTCF	chr2:190628700-190628850	NHLF	lung:	n/a	n/a
34	CTCF	chr2:190628800-190628950	HRPEpiC	eye:	n/a	n/a
35	POLR2A	chr2:190627067-190629472	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190626375..190630628-chr2:190647839..190651386,6	MCF-7	breast:
2	chr2:190524928..190526526-chr2:190626361..190628930,2	MCF-7	breast:
3	chr2:190524327..190528986-chr2:190625993..190629803,6	K562	blood:
4	chr2:190624834..190631096-chr2:190647637..190651740,7	K562	blood:
5	chr2:190525941..190528751-chr2:190627393..190630465,6	K562	blood:
6	chr2:190626523..190630050-chr2:190647058..190650887,5	MCF-7	breast:
7	chr2:190624834..190630334-chr2:190647529..190650706,8	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSGEPL1-1	chr2:190628585-190629182	ENSG00000273240.1

No data

Variant related genes	Relation type
OSGEPL1	TF binding region
ENSG00000128699	Chromatin interaction
ENSG00000064933	Chromatin interaction
ENSG00000138381	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10168387	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1030135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1145231	1.00[AMR][1000 genomes]
rs1145232	1.00[AMR][1000 genomes]
rs1145233	1.00[AMR][1000 genomes]
rs1145234	1.00[AMR][1000 genomes]
rs1225075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225079	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225080	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225081	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225084	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225085	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1225087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225088	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225089	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225090	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225092	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225114	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225116	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233241	1.00[AMR][1000 genomes]
rs1233242	1.00[AMR][1000 genomes]
rs1233243	1.00[AMR][1000 genomes]
rs1233244	1.00[AMR][1000 genomes]
rs1233246	1.00[AMR][1000 genomes]
rs1233247	1.00[AMR][1000 genomes]
rs1233248	1.00[AMR][1000 genomes]
rs1233249	1.00[AMR][1000 genomes]
rs1233250	1.00[AMR][1000 genomes]
rs1233251	1.00[AMR][1000 genomes]
rs1233252	1.00[AMR][1000 genomes]
rs1233253	1.00[AMR][1000 genomes]
rs1233254	1.00[AMR][1000 genomes]
rs1233256	1.00[AMR][1000 genomes]
rs1233257	1.00[AMR][1000 genomes]
rs1233260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233264	0.82[AFR][1000 genomes]
rs1233266	1.00[AMR][1000 genomes]
rs1233275	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233277	1.00[AMR][1000 genomes]
rs1233280	1.00[AMR][1000 genomes]
rs1233281	1.00[AMR][1000 genomes]
rs1233283	1.00[AMR][1000 genomes]
rs1233287	1.00[AMR][1000 genomes]
rs1233289	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233292	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233293	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233294	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233298	1.00[AMR][1000 genomes]
rs1233300	1.00[AMR][1000 genomes]
rs1233303	1.00[AMR][1000 genomes]
rs1238785	1.00[AMR][1000 genomes]
rs13034572	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1530143	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831859	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831861	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16831866	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16831876	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831884	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16831894	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1866643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1899024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1899026	0.82[AFR][1000 genomes]
rs1899027	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2164831	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2243894	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2244190	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2245742	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2245753	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2249907	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2252486	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2252487	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2254044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2255705	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2256718	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2256719	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2262765	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2438282	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2439184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2439185	1.00[ASN][1000 genomes]
rs2439186	0.81[AFR][1000 genomes]
rs2544056	1.00[AMR][1000 genomes]
rs2577632	0.81[AFR][1000 genomes]
rs4666784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55859858	1.00[ASN][1000 genomes]
rs5742956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743182	1.00[ASN][1000 genomes]
rs6434364	0.81[AFR][1000 genomes]
rs6434369	0.88[AFR][1000 genomes]
rs6706168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709840	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6725344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6735135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7591672	1.00[ASN][1000 genomes]
rs7606224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190626800-190629000	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr2:190627800-190629000	Active TSS	Fetal Brain Male	brain
3	chr2:190627800-190642800	Weak transcription	Spleen	Spleen
4	chr2:190627800-190648200	Weak transcription	Gastric	stomach
5	chr2:190628200-190629000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:190628200-190629200	Enhancers	HSMM	muscle
7	chr2:190628200-190630800	Weak transcription	Left Ventricle	heart
8	chr2:190628200-190635400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:190628200-190635800	Weak transcription	Fetal Heart	heart
10	chr2:190628200-190635800	Weak transcription	Ovary	ovary
11	chr2:190628200-190638000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:190628200-190638000	Weak transcription	Right Ventricle	heart
13	chr2:190628200-190638400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:190628200-190638600	Weak transcription	Colonic Mucosa	Colon
15	chr2:190628200-190642800	Weak transcription	Lung	lung
16	chr2:190628200-190643200	Weak transcription	Esophagus	oesophagus
17	chr2:190628200-190645600	Weak transcription	Pancreas	Pancrea
18	chr2:190628200-190648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:190628200-190648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:190628200-190648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:190628400-190629000	Flanking Active TSS	Dnd41	blood
22	chr2:190628400-190629200	Flanking Active TSS	GM12878-XiMat	blood
23	chr2:190628400-190631400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:190628400-190631400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:190628400-190635400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:190628400-190635600	Weak transcription	Brain Germinal Matrix	brain
27	chr2:190628400-190635800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:190628400-190635800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr2:190628400-190642800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:190628400-190648000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:190628600-190629000	Enhancers	Primary B cells from cord blood	blood
32	chr2:190628600-190629000	Enhancers	Primary T cells from cord blood	blood
33	chr2:190628600-190629000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr2:190628600-190629000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:190628600-190629000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:190628600-190629000	Enhancers	Adipose Nuclei	Adipose
37	chr2:190628600-190629000	Enhancers	Liver	Liver
38	chr2:190628600-190629000	Enhancers	Brain Substantia Nigra	brain
39	chr2:190628600-190629000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr2:190628600-190629000	Enhancers	Fetal Muscle Leg	muscle
41	chr2:190628600-190629000	Enhancers	A549	lung
42	chr2:190628600-190629200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:190628600-190629200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:190628600-190629200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:190628600-190629200	Enhancers	Hela-S3	cervix
46	chr2:190628600-190629200	Enhancers	NHDF-Ad	bronchial
47	chr2:190628600-190629200	Enhancers	Osteobl	bone
48	chr2:190628600-190629400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:190628600-190629400	Enhancers	NHLF	lung
50	chr2:190628600-190630000	Weak transcription	HSMMtube	muscle

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