Variant report

Variant	rs12079315
Chromosome Location	chr1:173690551-173690552
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173686308..173688392-chr1:173689930..173692042,2	K562	blood:
2	chr1:173684004..173686293-chr1:173689052..173693084,4	MCF-7	breast:
3	chr1:173680351..173683002-chr1:173689911..173692365,2	K562	blood:
4	chr1:173680023..173685703-chr1:173685874..173692365,9	K562	blood:

Variant related genes	Relation type
ENSG00000076321	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10157215	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157218	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157371	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157384	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157684	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158197	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158568	1.00[EUR][1000 genomes]
rs10399912	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489892	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489893	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912668	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912674	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912681	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912687	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912688	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912693	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912699	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912700	1.00[EUR][1000 genomes]
rs10912701	1.00[EUR][1000 genomes]
rs10912707	1.00[EUR][1000 genomes]
rs10912708	1.00[EUR][1000 genomes]
rs1135333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11484566	0.84[AFR][1000 genomes]
rs11487390	1.00[EUR][1000 genomes]
rs12057440	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060967	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061013	1.00[EUR][1000 genomes]
rs12062801	1.00[EUR][1000 genomes]
rs12063296	1.00[EUR][1000 genomes]
rs12064818	1.00[EUR][1000 genomes]
rs12067191	1.00[EUR][1000 genomes]
rs12067795	0.84[AFR][1000 genomes]
rs12069446	1.00[EUR][1000 genomes]
rs12073448	1.00[EUR][1000 genomes]
rs12078471	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079240	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079650	1.00[EUR][1000 genomes]
rs12081137	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12083064	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084213	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090440	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090507	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093624	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094912	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1322773	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1322781	1.00[EUR][1000 genomes]
rs1570385	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846395	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846398	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1903410	1.00[EUR][1000 genomes]
rs1903411	1.00[EUR][1000 genomes]
rs2227611	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2227622	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28853918	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652225	0.83[AMR][1000 genomes]
rs56195767	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57586767	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57820984	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59090917	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59332560	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60047664	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425256	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6684147	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6690869	1.00[EUR][1000 genomes]
rs73033131	1.00[EUR][1000 genomes]
rs74126415	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7556211	1.00[EUR][1000 genomes]
rs874342	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425413	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425414	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425427	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425735	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425768	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs997165	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv1014827	chr1:173653453-173692470	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173684800-173695000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:173684800-173702800	Weak transcription	Spleen	Spleen
3	chr1:173685000-173695200	Weak transcription	Esophagus	oesophagus
4	chr1:173685000-173695200	Weak transcription	Pancreas	Pancrea
5	chr1:173685000-173720800	Weak transcription	Small Intestine	intestine
6	chr1:173685200-173692200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:173685200-173692200	Weak transcription	Placenta	Placenta
8	chr1:173685200-173693400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:173685200-173694000	Weak transcription	Left Ventricle	heart
10	chr1:173685200-173694200	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:173685200-173694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:173685200-173694400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:173685200-173694400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:173685200-173694400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:173685200-173694400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:173685200-173694600	Weak transcription	Colonic Mucosa	Colon
17	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:173685400-173690600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:173685400-173690600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr1:173685400-173691200	Weak transcription	Thymus	Thymus
21	chr1:173685400-173691400	Weak transcription	Aorta	Aorta
22	chr1:173685400-173694000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:173685400-173694200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:173685400-173694400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:173685400-173694400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:173685400-173694400	Weak transcription	Fetal Brain Male	brain
27	chr1:173685400-173702800	Weak transcription	Psoas Muscle	Psoas
28	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:173685600-173691200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:173685600-173692200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:173685600-173693800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:173685600-173694200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:173685600-173694600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:173685600-173702800	Weak transcription	Brain Substantia Nigra	brain
35	chr1:173685800-173690600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr1:173685800-173690800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:173685800-173692400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:173685800-173693600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:173685800-173702800	Weak transcription	NH-A	brain
40	chr1:173685800-173703000	Weak transcription	Osteobl	bone
41	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:173686000-173690600	Weak transcription	Fetal Brain Female	brain
43	chr1:173686000-173693800	Weak transcription	HMEC	breast
44	chr1:173686200-173690600	Weak transcription	Primary B cells from cord blood	blood
45	chr1:173686200-173691200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:173686200-173691600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:173686200-173692000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:173686200-173692200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:173686200-173694400	Weak transcription	NHLF	lung
50	chr1:173686200-173702800	Weak transcription	NHEK	skin

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