Variant report

Variant	rs930426
Chromosome Location	chr2:190629040-190629041
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:190628674-190629075	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:190627247-190629363	K562	blood:	n/a	n/a
3	POLR2A	chr2:190626991-190629517	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr2:190628839-190629489	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:190626742-190629362	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:190628872-190629448	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:190626813-190629360	GM12891	blood:	n/a	n/a
8	POLR2A	chr2:190628612-190629166	SK-N-SH	brain:	n/a	n/a
9	SMC3	chr2:190628839-190629060	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:190627067-190629472	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190626375..190630628-chr2:190647839..190651386,6	MCF-7	breast:
2	chr2:190524327..190528986-chr2:190625993..190629803,6	K562	blood:
3	chr2:190624834..190631096-chr2:190647637..190651740,7	K562	blood:
4	chr2:190525941..190528751-chr2:190627393..190630465,6	K562	blood:
5	chr2:190626523..190630050-chr2:190647058..190650887,5	MCF-7	breast:
6	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
ENSG00000064933	Chromatin interaction
ENSG00000138381	Chromatin interaction
ENSG00000128699	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1020151	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs10209441	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10931429	1.00[ASW][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs11888192	1.00[YRI][hapmap]
rs11888722	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225086	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225100	0.80[YRI][hapmap]
rs1225103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225105	0.80[YRI][hapmap]
rs1225121	0.80[YRI][hapmap]
rs12693550	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1437880	1.00[ASW][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs1470100	0.80[YRI][hapmap]
rs1550241	1.00[ASW][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs1550242	1.00[AMR][1000 genomes]
rs1898559	0.80[YRI][hapmap]
rs2019099	1.00[ASW][hapmap];0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs2118454	1.00[AMR][1000 genomes]
rs2196670	0.80[YRI][hapmap]
rs2254040	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2263968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2352288	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4667301	0.80[YRI][hapmap]
rs5742934	0.80[YRI][hapmap]
rs5742992	1.00[AMR][1000 genomes]
rs5742999	1.00[AMR][1000 genomes]
rs5743205	1.00[AMR][1000 genomes]
rs6723158	1.00[AMR][1000 genomes]
rs893782	1.00[AMR][1000 genomes]
rs893783	1.00[AMR][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190627800-190642800	Weak transcription	Spleen	Spleen
2	chr2:190627800-190648200	Weak transcription	Gastric	stomach
3	chr2:190628200-190629200	Enhancers	HSMM	muscle
4	chr2:190628200-190630800	Weak transcription	Left Ventricle	heart
5	chr2:190628200-190635400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:190628200-190635800	Weak transcription	Fetal Heart	heart
7	chr2:190628200-190635800	Weak transcription	Ovary	ovary
8	chr2:190628200-190638000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:190628200-190638000	Weak transcription	Right Ventricle	heart
10	chr2:190628200-190638400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:190628200-190638600	Weak transcription	Colonic Mucosa	Colon
12	chr2:190628200-190642800	Weak transcription	Lung	lung
13	chr2:190628200-190643200	Weak transcription	Esophagus	oesophagus
14	chr2:190628200-190645600	Weak transcription	Pancreas	Pancrea
15	chr2:190628200-190648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:190628200-190648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:190628200-190648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:190628400-190629200	Flanking Active TSS	GM12878-XiMat	blood
19	chr2:190628400-190631400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:190628400-190631400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:190628400-190635400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:190628400-190635600	Weak transcription	Brain Germinal Matrix	brain
23	chr2:190628400-190635800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:190628400-190635800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:190628400-190642800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:190628400-190648000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:190628600-190629200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:190628600-190629200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr2:190628600-190629200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:190628600-190629200	Enhancers	Hela-S3	cervix
31	chr2:190628600-190629200	Enhancers	NHDF-Ad	bronchial
32	chr2:190628600-190629200	Enhancers	Osteobl	bone
33	chr2:190628600-190629400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:190628600-190629400	Enhancers	NHLF	lung
35	chr2:190628600-190630000	Weak transcription	HSMMtube	muscle
36	chr2:190628600-190631000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:190628600-190631000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr2:190628600-190631200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:190628600-190631200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:190628600-190631400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:190628600-190631400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:190628600-190631400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:190628600-190631400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:190628600-190631400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:190628600-190631400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:190628600-190631400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:190628600-190631600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:190628600-190631800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr2:190628600-190632000	Weak transcription	Placenta	Placenta
50	chr2:190628600-190632800	Weak transcription	Brain Anterior Caudate	brain

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