Variant report

Variant	rs11119943
Chromosome Location	chr1:212628449-212628450
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212622646..212625445-chr1:212627199..212631249,4	K562	blood:
2	chr1:212626698..212637479-chr1:212779685..212784714,19	K562	blood:
3	chr1:212540816..212542855-chr1:212627781..212629569,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10863967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863968	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863969	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11119937	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11119940	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11119941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11119942	0.81[EUR][1000 genomes]
rs11119944	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12023863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17019129	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs3767870	0.81[JPT][hapmap]
rs3767872	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4951446	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4951447	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]
rs4951448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4951598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951599	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4951600	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59001230	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs675065	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs731075	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs791720	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[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:71 , 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	chr1:212622400-212628600	Enhancers	Fetal Muscle Trunk	muscle
21	chr1:212622400-212631000	Enhancers	Fetal Muscle Leg	muscle
22	chr1:212622800-212629400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:212623000-212629400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:212624400-212629200	Weak transcription	Fetal Thymus	thymus
25	chr1:212624800-212630000	Weak transcription	Esophagus	oesophagus
26	chr1:212626400-212629000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:212626400-212629200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:212626400-212629400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:212626600-212629400	Weak transcription	Fetal Intestine Small	intestine
30	chr1:212626600-212629600	Weak transcription	Fetal Lung	lung
31	chr1:212626800-212628800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:212626800-212629000	Weak transcription	Fetal Heart	heart
33	chr1:212626800-212629200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:212626800-212629200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:212626800-212629200	Weak transcription	Adipose Nuclei	Adipose
36	chr1:212626800-212629200	Weak transcription	Placenta	Placenta
37	chr1:212626800-212629200	Weak transcription	NHDF-Ad	bronchial
38	chr1:212626800-212629200	Weak transcription	NHLF	lung
39	chr1:212626800-212629200	Weak transcription	Osteobl	bone
40	chr1:212626800-212629400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:212626800-212629400	Weak transcription	HSMM	muscle
42	chr1:212627000-212628600	Weak transcription	Brain Angular Gyrus	brain
43	chr1:212627000-212628800	Weak transcription	Brain Substantia Nigra	brain
44	chr1:212627000-212629200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:212627000-212629200	Weak transcription	Fetal Brain Female	brain
46	chr1:212627000-212629200	Weak transcription	Pancreas	Pancrea
47	chr1:212627000-212629600	Weak transcription	Fetal Stomach	stomach
48	chr1:212627200-212628800	Weak transcription	Brain Anterior Caudate	brain
49	chr1:212627200-212629000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:212627200-212629000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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