Variant report

Variant	rs12134379
Chromosome Location	chr1:227325759-227325760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227314587..227318154-chr1:227324311..227326852,3	MCF-7	breast:
2	chr1:227322546..227324104-chr1:227325475..227327194,2	K562	blood:
3	chr1:227316215..227319084-chr1:227324943..227327660,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1045247	0.86[AFR][1000 genomes]
rs10495259	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10495271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10495272	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10916079	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11583247	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11583340	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11585910	0.85[AFR][1000 genomes]
rs11586575	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11586734	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12117207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12119153	0.87[CEU][hapmap]
rs12119448	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12121729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12122759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12123597	0.85[AFR][1000 genomes]
rs12127665	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12128667	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12131913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12133428	0.93[CEU][hapmap];0.83[JPT][hapmap]
rs12136857	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12138383	0.85[AFR][1000 genomes]
rs12141838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12739480	0.80[CEU][hapmap]
rs12744825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12746316	0.85[CEU][hapmap]
rs12747807	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12751015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12752546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12755437	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12755770	0.82[CEU][hapmap]
rs1320495	1.00[CEU][hapmap];0.89[JPT][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17544956	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17545704	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17546688	0.81[EUR][1000 genomes]
rs17592190	0.93[CEU][hapmap];0.86[AFR][1000 genomes]
rs17601316	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17601919	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17602169	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17613235	0.85[AFR][1000 genomes]
rs2150874	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34169114	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34556998	0.86[AFR][1000 genomes]
rs35156994	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35651721	0.82[EUR][1000 genomes]
rs35817866	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3768422	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs3768431	0.88[JPT][hapmap];0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3820651	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4308948	0.87[CEU][hapmap];0.85[AFR][1000 genomes]
rs61836468	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61836474	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6660168	0.85[AFR][1000 genomes]
rs6664330	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6675572	0.85[AFR][1000 genomes]
rs6681959	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6695431	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6698156	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7512871	0.87[CEU][hapmap];0.85[AFR][1000 genomes]
rs7518813	0.87[CEU][hapmap]
rs7523759	0.87[CEU][hapmap]
rs7526822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7538237	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7539662	0.80[CEU][hapmap]
rs7543419	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv468227	chr1:227223736-227340790	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv549269	chr1:227223736-227340790	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv549270	chr1:227290139-227361072	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227214800-227329200	Weak transcription	Right Ventricle	heart
2	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
3	chr1:227272800-227331000	Weak transcription	Lung	lung
4	chr1:227286400-227328200	Weak transcription	Brain Germinal Matrix	brain
5	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
6	chr1:227288000-227326400	Weak transcription	A549	lung
7	chr1:227288200-227332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:227288400-227343000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:227288600-227328200	Weak transcription	Fetal Stomach	stomach
11	chr1:227288600-227332400	Weak transcription	NHLF	lung
12	chr1:227288600-227333600	Weak transcription	Esophagus	oesophagus
13	chr1:227288800-227330000	Weak transcription	NHDF-Ad	bronchial
14	chr1:227295200-227346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:227296400-227326200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:227296600-227326200	Weak transcription	Fetal Lung	lung
17	chr1:227298600-227351800	Weak transcription	Hela-S3	cervix
18	chr1:227299800-227332600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:227300000-227325800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:227300000-227326400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:227300000-227328600	Weak transcription	Fetal Brain Female	brain
22	chr1:227300000-227329200	Weak transcription	Aorta	Aorta
23	chr1:227300000-227333800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:227300000-227379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:227300200-227326200	Weak transcription	Liver	Liver
26	chr1:227300200-227326400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:227300200-227334400	Weak transcription	Stomach Mucosa	stomach
28	chr1:227300600-227326600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:227307000-227326400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:227311000-227329200	Weak transcription	Pancreas	Pancrea
31	chr1:227311000-227329400	Weak transcription	Fetal Intestine Small	intestine
32	chr1:227313000-227326400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:227314000-227326800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:227314000-227327800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:227314200-227326200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:227314200-227326400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:227314200-227327800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:227314200-227327800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:227314200-227329400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:227316000-227326200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:227316200-227326600	Weak transcription	NH-A	brain
42	chr1:227316600-227352200	Weak transcription	Gastric	stomach
43	chr1:227316800-227326000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:227316800-227326400	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:227316800-227326400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr1:227316800-227326600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:227316800-227328200	Weak transcription	Left Ventricle	heart
48	chr1:227316800-227328400	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:227316800-227329000	Weak transcription	Placenta	Placenta
50	chr1:227316800-227329200	Weak transcription	Duodenum Mucosa	Duodenum

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