Variant report

Variant	rs11967232
Chromosome Location	chr6:119254897-119254898
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	CEBPB	chr6:119254797-119255085	HepG2	liver:	n/a	chr6:119255048-119255061
2	ZNF384	chr6:119254473-119255112	K562	blood:	n/a	n/a
3	HNF4A	chr6:119254861-119255253	HepG2	liver:	n/a	chr6:119255117-119255131 chr6:119255115-119255133 chr6:119255118-119255130 chr6:119255117-119255130 chr6:119255116-119255131 chr6:119255118-119255130 chr6:119255116-119255131 chr6:119255117-119255129 chr6:119255118-119255130 chr6:119255116-119255131 chr6:119255117-119255125
4	NRF1	chr6:119254865-119255184	HepG2	liver:	n/a	n/a
5	CEBPB	chr6:119254836-119255047	A549	lung:	n/a	n/a
6	CEBPB	chr6:119254752-119255061	Hela-S3	cervix:	n/a	chr6:119255048-119255061

No.	Distal block	Cell Line	Cell type
1	chr6:119213694..119219544-chr6:119251621..119258172,21	K562	blood:
2	chr6:119253156..119256806-chr6:119394976..119399977,7	K562	blood:
3	chr6:119213036..119217484-chr6:119254311..119257675,9	MCF-7	breast:
4	chr6:119242613..119249110-chr6:119251513..119257145,6	MCF-7	breast:
5	chr6:119148024..119150788-chr6:119254470..119256543,2	MCF-7	breast:
6	chr6:119252974..119255408-chr6:119376994..119379902,2	K562	blood:
7	chr6:119214552..119219906-chr6:119253918..119257622,8	MCF-7	breast:
8	chr6:119253238..119258280-chr6:119398045..119402661,8	K562	blood:
9	chr6:119213105..119220728-chr6:119253299..119257962,22	K562	blood:

Variant related genes	Relation type
ENSG00000253194	TF binding region
ENSG00000111879	Chromatin interaction
ENSG00000222649	Chromatin interaction
ENSG00000111875	Chromatin interaction
ENSG00000111877	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1022706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1022707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1022708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1022709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10499090	0.82[ASN][1000 genomes]
rs11153782	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527291	0.92[ASN][1000 genomes]
rs12527363	0.82[ASN][1000 genomes]
rs1807979	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1885125	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2145569	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145570	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2180860	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35906538	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3756940	0.82[ASN][1000 genomes]
rs3945959	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4245502	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946367	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4946369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946370	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946371	0.98[ASN][1000 genomes]
rs4946372	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946373	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946374	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946376	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946377	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946378	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946380	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4946381	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4946382	0.91[ASN][1000 genomes]
rs4946385	0.86[ASN][1000 genomes]
rs4946386	0.82[ASN][1000 genomes]
rs55978448	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56022752	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62422265	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62422266	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62422267	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422268	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62422269	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62422270	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569035	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6901738	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6903220	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6903579	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6904381	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910377	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6910782	0.83[EUR][1000 genomes]
rs6916168	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6916291	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6916491	0.97[ASN][1000 genomes]
rs6916672	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6918569	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6918844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6919100	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6923637	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6923771	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928315	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928945	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931423	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6933970	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935960	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939937	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6940120	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72970476	0.82[ASN][1000 genomes]
rs7381533	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7381535	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7381546	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741149	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7758729	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7758849	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7758862	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7759423	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9320669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9320671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9372517	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9374759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9374763	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9374764	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9374765	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9374766	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9374767	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9385060	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9385063	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9387610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9387611	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9387612	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9387613	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9387621	0.92[ASN][1000 genomes]
rs9401099	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9401103	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9401106	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9489563	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9489569	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9689589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988098	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9968863	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	esv16596	chr6:119251007-119272087	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv437523	chr6:119251971-119260280	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11967232	MCM9	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119221200-119255800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:119222000-119255200	Weak transcription	Fetal Heart	heart
3	chr6:119226000-119255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:119235600-119255200	Weak transcription	Fetal Brain Male	brain
5	chr6:119235600-119255400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:119236600-119255200	Weak transcription	Right Ventricle	heart
7	chr6:119237000-119255200	Weak transcription	Brain Germinal Matrix	brain
8	chr6:119237000-119255200	Weak transcription	Gastric	stomach
9	chr6:119237200-119255200	Weak transcription	Brain Angular Gyrus	brain
10	chr6:119239800-119255200	Weak transcription	NHLF	lung
11	chr6:119240000-119255200	Weak transcription	Fetal Brain Female	brain
12	chr6:119242600-119255200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:119242600-119255200	Weak transcription	Colonic Mucosa	Colon
14	chr6:119242800-119255800	Weak transcription	Spleen	Spleen
15	chr6:119243000-119255200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:119243400-119255200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:119244000-119255200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:119244000-119255400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:119244600-119255200	Weak transcription	Aorta	Aorta
20	chr6:119245200-119255000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:119245200-119255000	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:119245200-119255000	Weak transcription	Fetal Kidney	kidney
23	chr6:119245200-119255000	Weak transcription	HUVEC	blood vessel
24	chr6:119245200-119255400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:119245400-119255000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:119245400-119255200	Weak transcription	Osteobl	bone
27	chr6:119245400-119255600	Weak transcription	Pancreas	Pancrea
28	chr6:119245600-119255600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:119245800-119255200	Weak transcription	Brain Anterior Caudate	brain
30	chr6:119246600-119255400	Weak transcription	Ovary	ovary
31	chr6:119246800-119255200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:119246800-119255200	Weak transcription	Fetal Lung	lung
33	chr6:119247000-119255200	Weak transcription	NHEK	skin
34	chr6:119247600-119255000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:119249600-119255200	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:119249600-119255400	Weak transcription	Esophagus	oesophagus
37	chr6:119249800-119255200	Weak transcription	Psoas Muscle	Psoas
38	chr6:119249800-119255400	Weak transcription	Left Ventricle	heart
39	chr6:119250000-119255400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr6:119250200-119255400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:119250200-119255400	Weak transcription	Lung	lung
42	chr6:119250400-119255200	Weak transcription	HSMMtube	muscle
43	chr6:119251000-119255200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:119251000-119255200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:119251000-119255200	Weak transcription	Fetal Stomach	stomach
46	chr6:119252000-119255200	Weak transcription	NH-A	brain
47	chr6:119252200-119255000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:119252400-119255000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr6:119252400-119255400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:119252800-119255000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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