Variant report

Variant	rs2634679
Chromosome Location	chr12:48735304-48735305
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48591117..48593600-chr12:48733490..48736023,2	K562	blood:
2	chr12:48731724..48737573-chr12:48737990..48746470,14	K562	blood:
3	chr12:48732421..48734160-chr12:48734497..48737400,2	MCF-7	breast:
4	chr12:48732035..48733570-chr12:48734227..48737131,2	MCF-7	breast:
5	chr12:48729428..48731486-chr12:48731797..48736045,4	MCF-7	breast:
6	chr12:48731903..48736039-chr12:48740955..48745883,6	MCF-7	breast:
7	chr12:48718327..48723671-chr12:48729178..48735713,9	MCF-7	breast:
8	chr12:48727374..48736715-chr12:48738720..48747602,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257735	Chromatin interaction
ENSG00000269514	Chromatin interaction
ENSG00000187166	Chromatin interaction
ENSG00000167528	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1074174	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10783231	0.81[JPT][hapmap]
rs10783232	0.81[CEU][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap]
rs10783239	0.88[EUR][1000 genomes]
rs11168451	0.81[JPT][hapmap]
rs11168455	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs12822085	0.84[GIH][hapmap];0.81[JPT][hapmap]
rs1387256	0.84[EUR][1000 genomes]
rs1489111	0.86[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1552551	0.87[EUR][1000 genomes]
rs1906717	0.88[CEU][hapmap]
rs1906718	0.84[ASN][1000 genomes]
rs2054902	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2130096	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2258342	0.87[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2468947	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2468948	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2468950	0.93[EUR][1000 genomes]
rs2634669	0.95[EUR][1000 genomes]
rs2634674	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2634699	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2634701	0.84[ASN][1000 genomes]
rs2732440	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2732443	0.84[ASN][1000 genomes]
rs2732446	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2732451	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2732455	0.87[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2732458	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap];0.87[TSI][hapmap];0.95[EUR][1000 genomes]
rs2732460	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2732464	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2732474	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2732475	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2732476	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2732477	0.87[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2732478	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2732487	0.87[CEU][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2932090	0.95[EUR][1000 genomes]
rs2932107	0.84[ASN][1000 genomes]
rs2956704	0.84[ASN][1000 genomes]
rs3989427	0.82[ASN][1000 genomes]
rs4075913	0.81[JPT][hapmap]
rs4760620	0.82[GIH][hapmap];0.81[JPT][hapmap]
rs4760623	0.86[EUR][1000 genomes]
rs4760692	0.85[JPT][hapmap]
rs4760698	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs60908321	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580660	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs7134201	0.84[ASN][1000 genomes]
rs7304709	0.83[ASN][1000 genomes]
rs7315258	0.82[GIH][hapmap];0.81[JPT][hapmap]
rs7485057	0.81[JPT][hapmap]
rs7953726	0.84[EUR][1000 genomes]
rs7969749	0.81[JPT][hapmap]
rs901962	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs901963	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs901964	0.86[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9645811	0.83[ASN][1000 genomes]
rs987986	0.89[EUR][1000 genomes]

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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active 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	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv826362	chr12:48693048-48768853	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv437752	chr12:48721832-48741219	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv1044444	chr12:48725007-48737570	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
11	nsv1045159	chr12:48730024-48748940	Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2634679	ASB8	cis	parietal	SCAN
rs2634679	ZNF641	cis	Whole Blood	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48723800-48736600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:48724400-48736000	Weak transcription	Fetal Stomach	stomach
3	chr12:48725200-48735800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:48725200-48736800	Weak transcription	Hela-S3	cervix
5	chr12:48728000-48736000	Weak transcription	HSMMtube	muscle
6	chr12:48728800-48736600	Weak transcription	Right Ventricle	heart
7	chr12:48728800-48737000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:48729000-48735600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:48729000-48735800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:48729000-48736000	Weak transcription	Spleen	Spleen
11	chr12:48729000-48736400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:48729000-48739200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:48729200-48736600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:48729200-48736600	Weak transcription	Fetal Intestine Small	intestine
15	chr12:48729200-48736600	Weak transcription	Pancreas	Pancrea
16	chr12:48729200-48743400	Weak transcription	Stomach Mucosa	stomach
17	chr12:48729400-48736000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:48730000-48736000	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:48730200-48736000	Weak transcription	Placenta	Placenta
20	chr12:48730200-48736600	Weak transcription	Ovary	ovary
21	chr12:48730400-48736400	Weak transcription	Lung	lung
22	chr12:48730600-48736800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:48730800-48736000	Weak transcription	Brain Angular Gyrus	brain
24	chr12:48731000-48736000	Weak transcription	Fetal Lung	lung
25	chr12:48731000-48736400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:48731200-48738200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:48731200-48743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:48731400-48736200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:48731400-48736800	Weak transcription	Psoas Muscle	Psoas
30	chr12:48731600-48735400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:48731600-48735800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:48731600-48735800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:48731800-48736200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:48732000-48736600	Weak transcription	Gastric	stomach
35	chr12:48732000-48736600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr12:48732200-48735600	Weak transcription	Fetal Intestine Large	intestine
37	chr12:48732200-48736000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:48732400-48735600	Weak transcription	Brain Germinal Matrix	brain
39	chr12:48732400-48735800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:48732400-48736800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:48732400-48742600	Strong transcription	Left Ventricle	heart
42	chr12:48732600-48736600	Weak transcription	Osteobl	bone
43	chr12:48732600-48736800	Weak transcription	GM12878-XiMat	blood
44	chr12:48732600-48738000	Weak transcription	Small Intestine	intestine
45	chr12:48732600-48742600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:48732800-48736000	Weak transcription	Brain Substantia Nigra	brain
47	chr12:48732800-48736600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr12:48732800-48736600	Weak transcription	Esophagus	oesophagus
49	chr12:48732800-48737000	Weak transcription	NH-A	brain
50	chr12:48733000-48736200	Weak transcription	Duodenum Mucosa	Duodenum

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