Variant report

Variant	rs9496951
Chromosome Location	chr6:144715754-144715755
allele	A/C
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	EBF1	chr6:144715395-144715758	GM12878	blood:	n/a	n/a
2	RUNX3	chr6:144715331-144715757	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000219409	TF binding region

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11965745	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12110410	0.82[YRI][hapmap]
rs2223428	1.00[ASN][1000 genomes]
rs2328570	1.00[ASN][1000 genomes]
rs4546509	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57580585	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59893699	1.00[ASN][1000 genomes]
rs6902637	1.00[ASN][1000 genomes]
rs6910059	1.00[ASN][1000 genomes]
rs6929328	0.83[YRI][hapmap];0.80[AFR][1000 genomes]
rs6936691	1.00[ASN][1000 genomes]
rs73780553	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7748278	1.00[ASN][1000 genomes]
rs7755700	1.00[ASN][1000 genomes]
rs9321973	1.00[ASN][1000 genomes]
rs9484868	1.00[ASN][1000 genomes]
rs9484871	1.00[ASN][1000 genomes]
rs9484872	0.95[YRI][hapmap];0.93[AFR][1000 genomes]
rs9484873	0.83[ASW][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496952	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496953	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496954	1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs9496957	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496959	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs9496961	0.88[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[ASN][1000 genomes]
rs9496965	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144697200-144732600	Weak transcription	Gastric	stomach
2	chr6:144700600-144719200	Weak transcription	Ovary	ovary
3	chr6:144700800-144716000	Weak transcription	NHLF	lung
4	chr6:144700800-144719000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:144700800-144719000	Weak transcription	Esophagus	oesophagus
6	chr6:144700800-144719000	Weak transcription	Spleen	Spleen
7	chr6:144702800-144720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:144703200-144719000	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:144703400-144717600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:144703800-144718600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:144704000-144718400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:144704000-144719000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:144705800-144722600	Weak transcription	Psoas Muscle	Psoas
14	chr6:144706200-144718200	Weak transcription	Fetal Intestine Small	intestine
15	chr6:144707600-144716000	Weak transcription	Osteobl	bone
16	chr6:144707600-144717800	Weak transcription	Dnd41	blood
17	chr6:144707600-144719000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:144707600-144719000	Weak transcription	Aorta	Aorta
19	chr6:144707600-144719000	Weak transcription	Pancreas	Pancrea
20	chr6:144708400-144715800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:144708400-144716200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:144709000-144716400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:144709000-144716800	Weak transcription	Adipose Nuclei	Adipose
24	chr6:144709000-144719200	Weak transcription	Fetal Kidney	kidney
25	chr6:144709400-144718400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:144709600-144718400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:144710000-144716400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr6:144710200-144719000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr6:144710600-144716000	Weak transcription	HSMM	muscle
30	chr6:144711800-144728000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:144712000-144726400	Weak transcription	HSMMtube	muscle
32	chr6:144712200-144715800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr6:144712400-144720800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:144712400-144722800	Weak transcription	Right Ventricle	heart
35	chr6:144712600-144719000	Weak transcription	Left Ventricle	heart
36	chr6:144712600-144732600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:144712800-144719000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:144713000-144718000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:144713000-144719000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:144713200-144719000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr6:144713800-144719000	Weak transcription	Fetal Lung	lung
42	chr6:144714200-144717000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr6:144714200-144717800	Weak transcription	HepG2	liver
44	chr6:144714200-144718800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:144714200-144719000	Weak transcription	Primary T cells from cord blood	blood
46	chr6:144714400-144718800	Weak transcription	Fetal Thymus	thymus
47	chr6:144714400-144719000	Weak transcription	Thymus	Thymus
48	chr6:144714400-144720800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:144714800-144718800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:144715200-144717400	Weak transcription	GM12878-XiMat	blood

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