Variant report

Variant	rs11682864
Chromosome Location	chr2:128237987-128237988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127955337..127956037-chr2:128237940..128238875,2	K562	blood:
2	chr2:128235827..128238807-chr2:128287710..128289733,2	MCF-7	breast:
3	chr2:128080706..128082331-chr2:128236038..128238787,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10496663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10928769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679431	0.86[EUR][1000 genomes]
rs11681225	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11690086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11892245	0.81[ASN][1000 genomes]
rs12053309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12233101	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12616100	0.80[ASN][1000 genomes]
rs12616200	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12618494	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12619972	0.84[EUR][1000 genomes]
rs12620037	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12623334	0.85[EUR][1000 genomes]
rs13011041	0.85[EUR][1000 genomes]
rs13389029	0.86[EUR][1000 genomes]
rs17015274	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17015334	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17015401	0.81[ASN][1000 genomes]
rs1864553	0.81[ASN][1000 genomes]
rs2082182	0.80[ASN][1000 genomes]
rs2099209	0.80[ASN][1000 genomes]
rs2288655	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3732205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889307	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56100618	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56106399	0.86[EUR][1000 genomes]
rs56261855	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56327685	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58880408	0.86[EUR][1000 genomes]
rs62156572	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62156576	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62156599	0.81[ASN][1000 genomes]
rs62160289	0.84[EUR][1000 genomes]
rs62160291	0.85[EUR][1000 genomes]
rs6716489	0.86[EUR][1000 genomes]
rs6758364	0.80[ASN][1000 genomes]
rs72843327	0.81[ASN][1000 genomes]
rs7586672	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs777556	0.97[ASN][1000 genomes]
rs873099	0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11682864	AC068282.3	cis	Esophagus Mucosa	GTEx
rs11682864	AC068282.3	cis	Nerve Tibial	GTEx
rs11682864	AC068282.3	cis	Adipose Subcutaneous	GTEx
rs11682864	AC068282.3	cis	Muscle Skeletal	GTEx
rs11682864	AC068282.3	cis	Whole Blood	GTEx
rs11682864	AC068282.3	cis	Esophagus Muscularis	GTEx
rs11682864	AC068282.3	cis	Thyroid	GTEx
rs11682864	AC068282.3	cis	Artery Tibial	GTEx
rs11682864	AC068282.3	cis	Skin Sun Exposed Lower leg	GTEx
rs11682864	AC068282.3	cis	lung	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128208400-128238800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:128209000-128238000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:128210200-128238000	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:128213800-128238000	Weak transcription	Brain Germinal Matrix	brain
5	chr2:128220400-128239800	Weak transcription	Fetal Lung	lung
6	chr2:128222800-128239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:128223600-128268800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:128223800-128238400	Weak transcription	K562	blood
9	chr2:128224000-128241800	Weak transcription	Small Intestine	intestine
10	chr2:128226200-128244000	Weak transcription	Psoas Muscle	Psoas
11	chr2:128227400-128238800	Weak transcription	Ovary	ovary
12	chr2:128227600-128239000	Weak transcription	NHEK	skin
13	chr2:128227800-128240000	Weak transcription	Brain Angular Gyrus	brain
14	chr2:128227800-128240000	Weak transcription	Pancreas	Pancrea
15	chr2:128228000-128239400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:128229000-128257000	Weak transcription	Stomach Mucosa	stomach
17	chr2:128229200-128238400	Weak transcription	NHDF-Ad	bronchial
18	chr2:128232600-128240000	Weak transcription	Fetal Brain Male	brain
19	chr2:128234000-128242600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:128235000-128240200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:128235200-128238200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:128235200-128270000	Strong transcription	Dnd41	blood
23	chr2:128235600-128239000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:128235600-128239800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:128235800-128238000	Weak transcription	Hela-S3	cervix
26	chr2:128236400-128238800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:128237000-128238400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:128237200-128238600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:128237200-128242800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:128237200-128243400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:128237200-128244000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:128237400-128238200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr2:128237400-128239400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:128237400-128239800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:128237400-128241400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:128237400-128243000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:128237400-128252400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr2:128237400-128262400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:128237600-128238000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr2:128237600-128238000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:128237600-128238000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:128237600-128238200	Genic enhancers	Fetal Intestine Small	intestine
43	chr2:128237600-128238400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr2:128237600-128238400	Strong transcription	Aorta	Aorta
45	chr2:128237600-128238800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:128237600-128239000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:128237600-128239000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr2:128237600-128239800	Weak transcription	Fetal Kidney	kidney
49	chr2:128237600-128240400	Strong transcription	Right Ventricle	heart
50	chr2:128237600-128240600	Strong transcription	Skeletal Muscle Female	skeletal muscle

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