Variant report

Variant	rs2919057
Chromosome Location	chr11:74702119-74702120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74667608..74669880-chr11:74700969..74702927,2	K562	blood:
2	chr11:74700408..74702361-chr11:74702653..74705005,3	K562	blood:
3	chr11:74659008..74661915-chr11:74699636..74702523,6	MCF-7	breast:
4	chr11:74647585..74649948-chr11:74700186..74702806,2	K562	blood:

Variant related genes	Relation type
ENSG00000166435	Chromatin interaction
ENSG00000118363	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10899066	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs11605604	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs12363224	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs1282460	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs1282689	0.83[ASN][1000 genomes]
rs1282690	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1282692	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1282695	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1292895	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1297319	0.87[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1583342	0.93[JPT][hapmap]
rs2028343	0.85[ASN][1000 genomes]
rs2028344	0.85[ASN][1000 genomes]
rs2033532	0.93[JPT][hapmap]
rs2851136	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245439	0.85[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4373962	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4592443	0.84[AFR][1000 genomes]
rs471462	1.00[JPT][hapmap]
rs473256	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs480840	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs511021	0.85[ASN][1000 genomes]
rs511890	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs512780	0.93[JPT][hapmap]
rs519741	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs527529	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs529488	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs537054	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs538502	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs543244	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs546643	0.83[ASN][1000 genomes]
rs550491	1.00[CHB][hapmap]
rs550869	0.85[ASN][1000 genomes]
rs550980	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs561589	0.94[JPT][hapmap]
rs562265	0.83[ASN][1000 genomes]
rs567956	0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs568558	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs568758	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs577063	0.89[ASN][1000 genomes]
rs590105	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs594144	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs599722	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs603062	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs614832	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs616085	0.83[ASN][1000 genomes]
rs624786	0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs625268	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs629573	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs641584	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs643807	0.80[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs646287	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs688665	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7121374	0.84[YRI][hapmap]
rs7938876	0.88[ASN][1000 genomes]
rs9444	0.94[JPT][hapmap]
rs997465	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2919057	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs2919057	XRRA1	cis	Whole Blood	GTEx
rs2919057	XRRA1	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74700400-74702200	Flanking Active TSS	Dnd41	blood
2	chr11:74700400-74702200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:74700400-74716400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:74700400-74723000	Weak transcription	Small Intestine	intestine
5	chr11:74700600-74702200	Weak transcription	Left Ventricle	heart
6	chr11:74700600-74702800	Flanking Active TSS	K562	blood
7	chr11:74700600-74705600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:74700600-74705600	Weak transcription	Gastric	stomach
9	chr11:74700600-74705600	Weak transcription	Lung	lung
10	chr11:74700600-74716400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:74700600-74716400	Weak transcription	Aorta	Aorta
12	chr11:74700600-74716400	Weak transcription	Esophagus	oesophagus
13	chr11:74700600-74716400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:74700600-74716600	Weak transcription	Fetal Brain Male	brain
15	chr11:74700600-74722600	Weak transcription	HSMM	muscle
16	chr11:74700600-74725000	Weak transcription	HSMMtube	muscle
17	chr11:74700800-74702200	Enhancers	Primary B cells from cord blood	blood
18	chr11:74700800-74702200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:74700800-74702200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:74700800-74702400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr11:74700800-74702400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:74700800-74702400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:74700800-74702400	Enhancers	Fetal Heart	heart
24	chr11:74700800-74702400	Enhancers	Osteobl	bone
25	chr11:74700800-74702800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr11:74700800-74702800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:74700800-74702800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:74700800-74703000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:74700800-74703000	Enhancers	Fetal Intestine Large	intestine
30	chr11:74700800-74705200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:74700800-74705400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:74700800-74705400	Weak transcription	Brain Germinal Matrix	brain
33	chr11:74700800-74705400	Weak transcription	Brain Substantia Nigra	brain
34	chr11:74700800-74705400	Weak transcription	Fetal Brain Female	brain
35	chr11:74700800-74705400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:74700800-74705600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:74700800-74705600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:74700800-74705600	Weak transcription	Brain Angular Gyrus	brain
39	chr11:74700800-74705600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:74700800-74705600	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:74700800-74705600	Weak transcription	Fetal Stomach	stomach
42	chr11:74700800-74705600	Weak transcription	Ovary	ovary
43	chr11:74700800-74705600	Weak transcription	Spleen	Spleen
44	chr11:74700800-74705800	Weak transcription	Placenta	Placenta
45	chr11:74700800-74716400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:74700800-74716400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:74700800-74716400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:74700800-74716400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr11:74700800-74716400	Weak transcription	NHLF	lung
50	chr11:74700800-74716600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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