Variant report

Variant	rs12144094
Chromosome Location	chr1:120264823-120264824
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120264144..120265719-chr1:120292692..120294655,2	K562	blood:
2	chr1:120189883..120191475-chr1:120263812..120265843,2	MCF-7	breast:
3	chr1:120258475..120260260-chr1:120263404..120265007,2	K562	blood:
4	chr1:120255317..120256884-chr1:120262274..120265030,2	K562	blood:

Variant related genes	Relation type
ENSG00000143067	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10494229	1.00[CEU][hapmap]
rs10802125	1.00[ASN][1000 genomes]
rs10923868	1.00[ASN][1000 genomes]
rs10923870	1.00[ASN][1000 genomes]
rs11577560	1.00[CEU][hapmap]
rs11586489	1.00[ASN][1000 genomes]
rs11800545	1.00[CHB][hapmap]
rs11802076	1.00[CHB][hapmap]
rs12032931	1.00[CHB][hapmap]
rs12119140	1.00[ASN][1000 genomes]
rs12121447	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12127605	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12129705	1.00[ASN][1000 genomes]
rs12139088	1.00[ASN][1000 genomes]
rs12139860	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1441011	1.00[CEU][hapmap]
rs17258348	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1853048	0.91[CEU][hapmap]
rs34662109	1.00[ASN][1000 genomes]
rs35821663	1.00[ASN][1000 genomes]
rs3850870	1.00[CHB][hapmap]
rs4077553	1.00[ASN][1000 genomes]
rs41276626	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4481896	1.00[ASN][1000 genomes]
rs4659210	1.00[ASN][1000 genomes]
rs55899400	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56051540	1.00[ASN][1000 genomes]
rs56096705	1.00[ASN][1000 genomes]
rs6672394	1.00[CHB][hapmap]
rs6683122	1.00[CEU][hapmap]
rs72695107	1.00[ASN][1000 genomes]
rs72695109	1.00[ASN][1000 genomes]
rs72695117	1.00[ASN][1000 genomes]
rs72695123	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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120256200-120266600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:120256200-120267400	Weak transcription	Lung	lung
3	chr1:120256200-120271800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:120256400-120271800	Weak transcription	Gastric	stomach
5	chr1:120256400-120276800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:120256400-120284400	Weak transcription	GM12878-XiMat	blood
7	chr1:120256600-120275600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:120256800-120266000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:120257000-120266000	Weak transcription	HSMMtube	muscle
10	chr1:120257000-120271800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:120257000-120277400	Weak transcription	Fetal Heart	heart
12	chr1:120257000-120278400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:120257000-120278600	Weak transcription	HSMM	muscle
14	chr1:120257000-120282400	Weak transcription	A549	lung
15	chr1:120257200-120287000	Weak transcription	NH-A	brain
16	chr1:120257600-120268000	Weak transcription	Fetal Brain Male	brain
17	chr1:120258600-120267200	Weak transcription	Fetal Brain Female	brain
18	chr1:120258600-120289200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:120258800-120266000	Weak transcription	Esophagus	oesophagus
20	chr1:120258800-120269400	Weak transcription	Spleen	Spleen
21	chr1:120258800-120275000	Weak transcription	Right Atrium	heart
22	chr1:120259000-120265800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:120259200-120265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:120259200-120277800	Weak transcription	Right Ventricle	heart
25	chr1:120260400-120287600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:120260600-120266000	Enhancers	Pancreas	Pancrea
27	chr1:120261000-120265800	Weak transcription	Brain Angular Gyrus	brain
28	chr1:120261000-120274200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:120261000-120287200	Strong transcription	Hela-S3	cervix
30	chr1:120261200-120269400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:120261400-120268800	Weak transcription	Small Intestine	intestine
32	chr1:120261400-120274800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:120261600-120273600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:120261600-120288200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:120261800-120267800	Genic enhancers	HepG2	liver
36	chr1:120261800-120281600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:120261800-120287000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:120261800-120287600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:120262000-120273200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:120262000-120274600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr1:120262000-120284600	Strong transcription	Fetal Stomach	stomach
42	chr1:120262000-120287200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:120262000-120287400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:120262000-120287400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:120262000-120287800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:120262000-120288200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr1:120262200-120273800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:120262200-120274400	Strong transcription	Fetal Muscle Leg	muscle
49	chr1:120262200-120284400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:120262400-120279200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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