Variant report

Variant	rs12116749
Chromosome Location	chr1:211482905-211482906
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:211482900-211483359	K562	blood:	n/a	n/a
2	GATA1	chr1:211482771-211483373	PBDE	blood:	n/a	n/a
3	TBL1XR1	chr1:211482882-211483357	K562	blood:	n/a	n/a
4	ARID3A	chr1:211482670-211483354	K562	blood:	n/a	n/a
5	KAP1	chr1:211482853-211483573	K562	blood:	n/a	n/a
6	TAL1	chr1:211482904-211483366	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211478824..211485185-chr1:211486751..211490666,6	K562	blood:
2	chr1:211481961..211484354-chr1:211487300..211488898,2	K562	blood:
3	chr1:211481475..211483188-chr1:211555428..211558772,3	K562	blood:

No data

Variant related genes	Relation type
RCOR3	TF binding region
ENSG00000153363	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10449313	0.83[EUR][1000 genomes]
rs1055565	0.96[CEU][hapmap]
rs10779553	0.81[ASN][1000 genomes]
rs1084981	0.96[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs10863883	0.82[ASN][1000 genomes]
rs10863884	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10863888	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11119716	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11580084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11811405	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs12027724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12118279	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12403576	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12744021	0.82[ASN][1000 genomes]
rs1533217	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1663522	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs2798559	0.88[EUR][1000 genomes]
rs2920908	0.84[EUR][1000 genomes]
rs2920911	0.88[EUR][1000 genomes]
rs3002258	0.88[EUR][1000 genomes]
rs3111257	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs3111258	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs35426013	0.83[ASN][1000 genomes]
rs3738199	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs3767377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3767378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4366377	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4406705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4951520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4951523	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4951736	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4951741	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4951742	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6667740	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6689078	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs6696938	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6700747	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs6702366	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6703361	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7520989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7538692	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7550702	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs784369	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs784379	0.96[CEU][hapmap];0.81[CHB][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes]
rs784382	0.96[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs784383	0.88[EUR][1000 genomes]
rs784385	0.91[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs784389	0.88[EUR][1000 genomes]

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211434400-211487000	Weak transcription	Gastric	stomach
2	chr1:211440800-211483600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:211443200-211484000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:211444800-211491200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:211445800-211486800	Weak transcription	Esophagus	oesophagus
6	chr1:211447800-211486200	Weak transcription	Stomach Mucosa	stomach
7	chr1:211455000-211486800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:211456600-211486000	Weak transcription	Small Intestine	intestine
9	chr1:211461200-211499600	Weak transcription	Psoas Muscle	Psoas
10	chr1:211461400-211499600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:211461600-211499600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:211465200-211483200	Weak transcription	Right Ventricle	heart
13	chr1:211465600-211486800	Weak transcription	Pancreas	Pancrea
14	chr1:211465800-211486800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:211466200-211485800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:211466800-211483000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:211466800-211486000	Weak transcription	Aorta	Aorta
18	chr1:211467000-211483800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:211467000-211486800	Weak transcription	Spleen	Spleen
20	chr1:211467200-211486600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:211467200-211493800	Weak transcription	Fetal Brain Male	brain
22	chr1:211467400-211485600	Weak transcription	Brain Angular Gyrus	brain
23	chr1:211467600-211486000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:211467800-211486200	Weak transcription	Brain Substantia Nigra	brain
25	chr1:211467800-211494200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:211468000-211485800	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:211469400-211485600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:211470000-211486000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:211471800-211483000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:211472000-211485600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:211472000-211486600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:211472000-211487000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:211473800-211486000	Weak transcription	Lung	lung
34	chr1:211473800-211486600	Weak transcription	Fetal Intestine Small	intestine
35	chr1:211473800-211486600	Weak transcription	Fetal Stomach	stomach
36	chr1:211474200-211486200	Weak transcription	Colonic Mucosa	Colon
37	chr1:211474400-211485600	Weak transcription	Ovary	ovary
38	chr1:211474400-211486000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:211474400-211486200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:211474800-211486200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:211474800-211497000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:211475800-211483000	Weak transcription	Fetal Kidney	kidney
43	chr1:211475800-211485600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:211476800-211485600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:211477000-211483200	Weak transcription	Left Ventricle	heart
46	chr1:211477000-211485600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:211477200-211483000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:211477200-211483000	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:211477200-211483200	Weak transcription	NH-A	brain
50	chr1:211477200-211485600	Weak transcription	Brain Hippocampus Middle	brain

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