Variant report

Variant	rs12022113
Chromosome Location	chr1:85137984-85137985
allele	A/G
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	REST	chr1:85137825-85138057	PFSK-1	brain:	n/a	n/a
2	REST	chr1:85137785-85138034	H1-hESC	embryonic stem cell:	n/a	n/a
3	REST	chr1:85137810-85138038	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:85137568-85137997	K562	blood:	n/a	n/a
5	MAX	chr1:85137809-85138014	NB4	blood:	n/a	chr1:85137938-85137948

Variant related genes	Relation type
SSX2IP	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11578078	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12120614	0.91[ASN][1000 genomes]
rs12123923	0.92[JPT][hapmap]
rs12125951	0.85[CHB][hapmap];0.88[CHD][hapmap];0.92[JPT][hapmap]
rs12127432	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs1340527	0.88[ASN][1000 genomes]
rs1340528	0.88[ASN][1000 genomes]
rs2298076	0.92[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.83[ASN][1000 genomes]
rs2911567	1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2911571	0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[ASN][1000 genomes]
rs2911575	0.88[ASN][1000 genomes]
rs2911578	0.88[ASN][1000 genomes]
rs2911583	0.85[ASN][1000 genomes]
rs2911611	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs2943672	0.85[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap]
rs2994429	0.92[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[ASN][1000 genomes]
rs2994437	0.92[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2994439	0.83[ASN][1000 genomes]
rs2994440	0.83[ASN][1000 genomes]
rs2994449	0.90[ASN][1000 genomes]
rs2994941	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2994949	0.92[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.83[ASN][1000 genomes]
rs3096445	0.92[CHB][hapmap];0.94[CHD][hapmap];0.85[ASN][1000 genomes]
rs3768238	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3782	0.92[CHB][hapmap];0.97[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs4390189	0.88[ASN][1000 genomes]
rs4551615	0.88[ASN][1000 genomes]
rs56681543	0.88[ASN][1000 genomes]
rs6576722	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6576723	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6670415	0.89[ASN][1000 genomes]
rs6670434	0.84[ASN][1000 genomes]
rs6682889	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6687220	0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[ASN][1000 genomes]
rs7524511	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs818525	0.89[ASN][1000 genomes]
rs9661716	0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9662145	0.93[ASN][1000 genomes]

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85087000-85147400	Weak transcription	Gastric	stomach
2	chr1:85099200-85138200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:85106200-85140400	Weak transcription	NHEK	skin
4	chr1:85106400-85155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:85108000-85155000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:85111800-85152000	Weak transcription	Aorta	Aorta
7	chr1:85112400-85138200	Strong transcription	K562	blood
8	chr1:85113200-85138200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:85113400-85138200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:85114400-85139000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:85123600-85139200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:85123800-85140600	Weak transcription	Brain Substantia Nigra	brain
13	chr1:85124400-85138000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:85124400-85144400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:85124400-85145200	Weak transcription	Fetal Brain Male	brain
16	chr1:85124400-85149200	Weak transcription	Brain Angular Gyrus	brain
17	chr1:85124600-85140200	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:85124600-85154400	Weak transcription	A549	lung
19	chr1:85124800-85138800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:85124800-85153800	Weak transcription	Hela-S3	cervix
21	chr1:85125000-85153400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:85125000-85153600	Weak transcription	Fetal Kidney	kidney
23	chr1:85125600-85141600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr1:85126200-85140200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:85126200-85154000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:85126400-85143000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:85126400-85154200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr1:85126400-85154800	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:85126400-85155200	Weak transcription	Left Ventricle	heart
30	chr1:85126600-85152200	Weak transcription	Thymus	Thymus
31	chr1:85126600-85153400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:85126600-85154400	Weak transcription	Fetal Stomach	stomach
33	chr1:85126800-85141400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:85127800-85140600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:85127800-85154400	Weak transcription	Brain Germinal Matrix	brain
36	chr1:85128000-85139000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:85128200-85153600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:85128400-85140800	Weak transcription	Brain Anterior Caudate	brain
39	chr1:85128400-85141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:85128600-85139800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:85128600-85153200	Weak transcription	Dnd41	blood
42	chr1:85128800-85151000	Weak transcription	Fetal Brain Female	brain
43	chr1:85129000-85138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:85129000-85139000	Weak transcription	Liver	Liver
45	chr1:85129600-85139000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:85130000-85143000	Weak transcription	Primary B cells from cord blood	blood
47	chr1:85130400-85153600	Weak transcription	NHDF-Ad	bronchial
48	chr1:85131800-85143200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:85132000-85138000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:85132000-85145200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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