Variant report

Variant	rs4951447
Chromosome Location	chr1:212627038-212627039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212626698..212637479-chr1:212779685..212784714,19	K562	blood:
2	chr1:212626426..212628198-chr1:212780883..212782587,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10779581	1.00[ASW][hapmap]
rs10863955	1.00[AFR][1000 genomes]
rs10863967	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863968	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863969	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11119937	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11119940	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119941	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119942	0.81[EUR][1000 genomes]
rs11119943	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119944	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11119951	1.00[MKK][hapmap]
rs11119953	1.00[MKK][hapmap]
rs11119971	1.00[ASW][hapmap]
rs11119973	1.00[ASW][hapmap]
rs12023863	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12136095	1.00[MKK][hapmap]
rs12145484	1.00[MKK][hapmap]
rs12403586	1.00[MKK][hapmap]
rs17018777	1.00[AFR][1000 genomes]
rs17019129	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs1826214	1.00[MKK][hapmap]
rs3767868	1.00[MKK][hapmap]
rs3767870	0.80[JPT][hapmap]
rs3767872	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3820513	1.00[MKK][hapmap]
rs4951446	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951448	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4951597	1.00[MKK][hapmap]
rs4951598	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4951599	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4951600	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59001230	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs675065	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs731075	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs791720	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
6	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
7	nsv873156	chr1:212585092-212646225	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv873157	chr1:212610755-212640982	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv873158	chr1:212610755-212646225	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv873159	chr1:212610755-212669475	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv873160	chr1:212610755-212675482	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv873161	chr1:212610755-212683565	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212607400-212629200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr1:212607800-212629400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:212614400-212629200	Weak transcription	GM12878-XiMat	blood
4	chr1:212614400-212636800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:212619600-212629000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:212619600-212629000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:212619600-212629000	Weak transcription	K562	blood
8	chr1:212619600-212629200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:212619600-212636800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:212619800-212629000	Weak transcription	A549	lung
11	chr1:212619800-212629200	Weak transcription	Primary T cells from cord blood	blood
12	chr1:212619800-212629200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:212620000-212631000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:212620200-212629200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:212620200-212629200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:212620200-212631400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:212620800-212629000	Weak transcription	Dnd41	blood
18	chr1:212620800-212629200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:212620800-212629200	Weak transcription	Fetal Intestine Large	intestine
20	chr1:212622400-212627200	Enhancers	Brain Anterior Caudate	brain
21	chr1:212622400-212628000	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:212622400-212628000	Enhancers	Brain Hippocampus Middle	brain
23	chr1:212622400-212628600	Enhancers	Fetal Muscle Trunk	muscle
24	chr1:212622400-212631000	Enhancers	Fetal Muscle Leg	muscle
25	chr1:212622800-212629400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:212623000-212629400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:212623400-212627200	Enhancers	HSMMtube	muscle
28	chr1:212623600-212627400	Enhancers	Left Ventricle	heart
29	chr1:212624400-212629200	Weak transcription	Fetal Thymus	thymus
30	chr1:212624800-212630000	Weak transcription	Esophagus	oesophagus
31	chr1:212625200-212627400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:212625400-212627400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr1:212625400-212627400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:212625600-212627200	Enhancers	Colon Smooth Muscle	Colon
35	chr1:212625600-212627200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr1:212625600-212627400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:212625600-212627400	Enhancers	Fetal Brain Male	brain
38	chr1:212625800-212627200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:212625800-212627200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:212625800-212627200	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:212625800-212627400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:212625800-212627400	Enhancers	Right Ventricle	heart
43	chr1:212626000-212627200	Enhancers	Psoas Muscle	Psoas
44	chr1:212626000-212627200	Enhancers	Right Atrium	heart
45	chr1:212626200-212627400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:212626400-212627200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr1:212626400-212627800	Enhancers	Spleen	Spleen
48	chr1:212626400-212629000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:212626400-212629200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:212626400-212629400	Weak transcription	Muscle Satellite Cultured Cells	--

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