Variant report

Variant	rs10912687
Chromosome Location	chr1:173736409-173736410
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173735243..173738226-chr1:173747475..173749570,2	K562	blood:
2	chr1:173733973..173736471-chr1:173739138..173740675,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10157215	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157218	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157371	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157384	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10157684	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158197	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158568	1.00[EUR][1000 genomes]
rs10399912	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489892	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489893	0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912668	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912674	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912681	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912683	0.84[AMR][1000 genomes]
rs10912688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912693	0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912699	0.83[AFR][1000 genomes];1.00[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]
rs10912711	1.00[EUR][1000 genomes]
rs10912712	1.00[EUR][1000 genomes]
rs1135333	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11487390	1.00[EUR][1000 genomes]
rs12057440	0.83[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060967	0.81[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061013	1.00[EUR][1000 genomes]
rs12062801	1.00[EUR][1000 genomes]
rs12063273	1.00[EUR][1000 genomes]
rs12063296	1.00[EUR][1000 genomes]
rs12064818	1.00[EUR][1000 genomes]
rs12065194	1.00[EUR][1000 genomes]
rs12067191	1.00[EUR][1000 genomes]
rs12069446	1.00[EUR][1000 genomes]
rs12072553	1.00[EUR][1000 genomes]
rs12073448	1.00[EUR][1000 genomes]
rs12078471	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078645	1.00[EUR][1000 genomes]
rs12079240	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079315	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079650	1.00[EUR][1000 genomes]
rs12081137	0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12083064	0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084213	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086687	0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090440	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090507	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093624	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12094912	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1322773	0.80[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1322781	1.00[EUR][1000 genomes]
rs1570385	0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846395	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846398	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1903410	1.00[EUR][1000 genomes]
rs1903411	1.00[EUR][1000 genomes]
rs2227611	0.85[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2227622	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28853918	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4652225	0.91[AMR][1000 genomes]
rs56195767	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57586767	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57820984	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59090917	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59332560	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60047664	1.00[EUR][1000 genomes]
rs6425256	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6684147	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6690869	1.00[EUR][1000 genomes]
rs73033131	1.00[EUR][1000 genomes]
rs74126415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7550107	1.00[EUR][1000 genomes]
rs7556211	1.00[EUR][1000 genomes]
rs874342	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425413	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425414	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425427	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425735	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9425768	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs997165	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173726200-173760600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:173726600-173749000	Weak transcription	Fetal Heart	heart
3	chr1:173727200-173744000	Weak transcription	NH-A	brain
4	chr1:173727600-173744600	Weak transcription	HSMM	muscle
5	chr1:173727600-173750600	Weak transcription	HUVEC	blood vessel
6	chr1:173727600-173751400	Weak transcription	NHDF-Ad	bronchial
7	chr1:173727800-173743600	Weak transcription	HepG2	liver
8	chr1:173727800-173744000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:173728000-173744400	Weak transcription	NHLF	lung
10	chr1:173728400-173743400	Weak transcription	NHEK	skin
11	chr1:173728400-173744200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:173728400-173744200	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:173728600-173737400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:173728600-173743200	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:173728600-173743200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:173728600-173743600	Weak transcription	Brain Substantia Nigra	brain
17	chr1:173728600-173744400	Weak transcription	Fetal Brain Male	brain
18	chr1:173728800-173738200	Weak transcription	Esophagus	oesophagus
19	chr1:173728800-173740400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:173728800-173743400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:173728800-173743400	Weak transcription	Gastric	stomach
22	chr1:173728800-173743400	Weak transcription	Lung	lung
23	chr1:173728800-173743600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:173728800-173744000	Weak transcription	Aorta	Aorta
25	chr1:173728800-173744200	Weak transcription	Pancreas	Pancrea
26	chr1:173728800-173744200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:173728800-173744200	Weak transcription	HMEC	breast
28	chr1:173728800-173744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:173728800-173744600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:173728800-173744600	Weak transcription	Osteobl	bone
31	chr1:173728800-173748600	Weak transcription	Hela-S3	cervix
32	chr1:173728800-173749000	Weak transcription	Colonic Mucosa	Colon
33	chr1:173728800-173750000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:173728800-173764800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:173729000-173738400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:173729000-173743400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:173729000-173743400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:173729000-173743400	Weak transcription	Spleen	Spleen
39	chr1:173729000-173743400	Weak transcription	Dnd41	blood
40	chr1:173729000-173744000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:173729000-173744000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:173729000-173744000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:173729000-173744000	Weak transcription	Brain Angular Gyrus	brain
44	chr1:173729000-173744000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:173729000-173744000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:173729000-173744600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:173729000-173749000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:173729000-173752400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:173729000-173752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:173729000-173752600	Weak transcription	Right Ventricle	heart

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