Variant report

Variant	rs17212256
Chromosome Location	chr8:52831618-52831619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:52830829..52832627-chr8:52841141..52842793,2	K562	blood:
2	chr8:52829314..52832540-chr8:52837482..52840853,3	MCF-7	breast:
3	chr8:52805769..52807852-chr8:52829982..52831836,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10087958	0.82[JPT][hapmap]
rs10504130	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs10958300	0.96[ASN][1000 genomes]
rs10958301	0.96[ASN][1000 genomes]
rs10958305	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775587	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11775611	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777016	0.96[ASN][1000 genomes]
rs11777714	0.96[ASN][1000 genomes]
rs11778849	0.94[ASN][1000 genomes]
rs11780040	0.96[ASN][1000 genomes]
rs11781330	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs11784869	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11785805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11787229	0.90[ASN][1000 genomes]
rs12675786	0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs12675907	0.82[ASN][1000 genomes]
rs12676345	0.84[ASN][1000 genomes]
rs12676780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12676835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678639	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12679287	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679983	0.83[ASN][1000 genomes]
rs12680128	0.83[ASN][1000 genomes]
rs12681203	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681734	0.92[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs13265006	0.96[ASN][1000 genomes]
rs13276400	0.84[ASN][1000 genomes]
rs16916820	0.94[ASN][1000 genomes]
rs16916856	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16916865	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs16916906	0.96[ASN][1000 genomes]
rs16916961	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17212214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17284746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037138	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2037139	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2069119	0.84[ASN][1000 genomes]
rs2176120	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34058697	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs34073804	0.85[ASN][1000 genomes]
rs34213209	0.84[ASN][1000 genomes]
rs34319820	0.85[ASN][1000 genomes]
rs34364864	0.94[ASN][1000 genomes]
rs34372756	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34677273	1.00[ASN][1000 genomes]
rs34973406	0.94[ASN][1000 genomes]
rs35032384	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35509250	0.84[ASN][1000 genomes]
rs35603537	0.84[ASN][1000 genomes]
rs41453644	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs4292674	0.83[ASN][1000 genomes]
rs4321994	0.82[ASN][1000 genomes]
rs4534123	0.83[ASN][1000 genomes]
rs4598243	0.91[ASN][1000 genomes]
rs4626585	0.83[ASN][1000 genomes]
rs57212480	0.94[ASN][1000 genomes]
rs58561048	0.94[ASN][1000 genomes]
rs58583070	0.84[ASN][1000 genomes]
rs59602923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60153173	0.85[ASN][1000 genomes]
rs60304457	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60796336	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61326367	0.84[ASN][1000 genomes]
rs6768	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6994203	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs71513549	0.83[ASN][1000 genomes]
rs71513552	0.85[ASN][1000 genomes]
rs71513561	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs71513564	1.00[ASN][1000 genomes]
rs763550	0.94[ASN][1000 genomes]
rs9650179	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650180	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650305	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9792352	0.81[AMR][1000 genomes];0.96[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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17212256	LOC286071	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52812800-52833400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:52813200-52833200	Weak transcription	Brain Angular Gyrus	brain
3	chr8:52813400-52837200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:52813600-52837400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:52813800-52833200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:52813800-52835800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:52813800-52837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:52814000-52833200	Weak transcription	Fetal Lung	lung
9	chr8:52814000-52833600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:52814000-52836200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:52814000-52837400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:52814000-52839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:52814200-52842000	Weak transcription	Brain Substantia Nigra	brain
14	chr8:52814200-52850000	Weak transcription	Spleen	Spleen
15	chr8:52814800-52834200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:52814800-52834600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr8:52814800-52837200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:52815000-52852000	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:52815200-52833000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:52815200-52837400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:52817200-52833400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:52818000-52834800	Weak transcription	Pancreas	Pancrea
23	chr8:52819400-52834200	Weak transcription	Psoas Muscle	Psoas
24	chr8:52822400-52837800	Weak transcription	Esophagus	oesophagus
25	chr8:52822600-52860200	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:52823000-52833600	Weak transcription	Thymus	Thymus
27	chr8:52823000-52834800	Weak transcription	Fetal Intestine Small	intestine
28	chr8:52823000-52840200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr8:52823600-52838200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:52824800-52832600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:52826800-52834800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:52827200-52833600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:52827600-52836600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:52827800-52835800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:52828200-52832600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:52830400-52833800	Weak transcription	Brain Germinal Matrix	brain
37	chr8:52830800-52832600	Strong transcription	Primary B cells from cord blood	blood
38	chr8:52830800-52835800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:52831000-52831800	Strong transcription	Primary T cells from cord blood	blood
40	chr8:52831000-52832000	Strong transcription	Fetal Intestine Large	intestine
41	chr8:52831000-52832000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr8:52831000-52832200	Strong transcription	Adipose Nuclei	Adipose
43	chr8:52831000-52832200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:52831200-52832000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:52831200-52833400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:52831200-52835800	Weak transcription	Ovary	ovary
47	chr8:52831200-52836000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:52831200-52838800	Weak transcription	Left Ventricle	heart
49	chr8:52831200-52840800	Weak transcription	Right Ventricle	heart
50	chr8:52831400-52834200	Weak transcription	Liver	Liver

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