Variant report

Variant	rs2851136
Chromosome Location	chr11:74704410-74704411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74695452..74697635-chr11:74702648..74704873,2	K562	blood:
2	chr11:74703562..74705361-chr11:74717138..74719834,2	K562	blood:
3	chr11:74638842..74641193-chr11:74702656..74705073,2	K562	blood:
4	chr11:74702670..74704894-chr11:74816765..74819731,2	K562	blood:
5	chr11:74700408..74702361-chr11:74702653..74705005,3	K562	blood:
6	chr11:74699150..74702264-chr11:74702825..74705414,3	MCF-7	breast:
7	chr11:74702668..74704718-chr11:74707213..74709516,4	K562	blood:

Variant related genes	Relation type
ENSG00000162139	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1282689	0.83[ASN][1000 genomes]
rs1282690	0.81[ASN][1000 genomes]
rs1282692	0.89[ASN][1000 genomes]
rs1282695	0.85[ASN][1000 genomes]
rs1292895	0.83[ASN][1000 genomes]
rs1297319	0.85[ASN][1000 genomes]
rs2028343	0.85[ASN][1000 genomes]
rs2028344	0.85[ASN][1000 genomes]
rs2919057	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245439	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4373962	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs511021	0.85[ASN][1000 genomes]
rs511890	0.85[ASN][1000 genomes]
rs519741	0.85[ASN][1000 genomes]
rs529488	0.85[ASN][1000 genomes]
rs537054	0.88[ASN][1000 genomes]
rs543244	0.83[ASN][1000 genomes]
rs546643	0.83[ASN][1000 genomes]
rs550869	0.85[ASN][1000 genomes]
rs562265	0.83[ASN][1000 genomes]
rs567956	0.83[ASN][1000 genomes]
rs568758	0.85[ASN][1000 genomes]
rs577063	0.89[ASN][1000 genomes]
rs594144	0.91[ASN][1000 genomes]
rs599722	0.89[ASN][1000 genomes]
rs614832	0.83[ASN][1000 genomes]
rs616085	0.83[ASN][1000 genomes]
rs624786	0.88[ASN][1000 genomes]
rs629573	0.83[ASN][1000 genomes]
rs641584	0.83[ASN][1000 genomes]
rs643807	0.83[ASN][1000 genomes]
rs688665	0.83[ASN][1000 genomes]
rs7938876	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs997465	0.82[AMR][1000 genomes];0.80[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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2851136	XRRA1	cis	Thyroid	GTEx
rs2851136	XRRA1	cis	Muscle Skeletal	GTEx
rs2851136	XRRA1	cis	lung	GTEx
rs2851136	XRRA1	cis	Esophagus Mucosa	GTEx
rs2851136	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs2851136	XRRA1	cis	Artery Tibial	GTEx
rs2851136	XRRA1	cis	Nerve Tibial	GTEx
rs2851136	RP11-147I3.1	cis	Thyroid	GTEx
rs2851136	XRRA1	cis	Whole Blood	GTEx
rs2851136	XRRA1	cis	Skin Sun Exposed Lower leg	GTEx
rs2851136	XRRA1	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74700400-74716400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74700400-74723000	Weak transcription	Small Intestine	intestine
3	chr11:74700600-74705600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:74700600-74705600	Weak transcription	Gastric	stomach
5	chr11:74700600-74705600	Weak transcription	Lung	lung
6	chr11:74700600-74716400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:74700600-74716400	Weak transcription	Aorta	Aorta
8	chr11:74700600-74716400	Weak transcription	Esophagus	oesophagus
9	chr11:74700600-74716400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:74700600-74716600	Weak transcription	Fetal Brain Male	brain
11	chr11:74700600-74722600	Weak transcription	HSMM	muscle
12	chr11:74700600-74725000	Weak transcription	HSMMtube	muscle
13	chr11:74700800-74705200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:74700800-74705400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:74700800-74705400	Weak transcription	Brain Germinal Matrix	brain
16	chr11:74700800-74705400	Weak transcription	Brain Substantia Nigra	brain
17	chr11:74700800-74705400	Weak transcription	Fetal Brain Female	brain
18	chr11:74700800-74705400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:74700800-74705600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:74700800-74705600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:74700800-74705600	Weak transcription	Brain Angular Gyrus	brain
22	chr11:74700800-74705600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:74700800-74705600	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:74700800-74705600	Weak transcription	Fetal Stomach	stomach
25	chr11:74700800-74705600	Weak transcription	Ovary	ovary
26	chr11:74700800-74705600	Weak transcription	Spleen	Spleen
27	chr11:74700800-74705800	Weak transcription	Placenta	Placenta
28	chr11:74700800-74716400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:74700800-74716400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:74700800-74716400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:74700800-74716400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:74700800-74716400	Weak transcription	NHLF	lung
33	chr11:74700800-74716600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:74701000-74705400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:74701000-74705400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:74701000-74705400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:74701000-74705400	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:74701000-74705600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:74701000-74705600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:74701000-74705600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:74701000-74705600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:74701000-74705600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:74701000-74705600	Weak transcription	Brain Anterior Caudate	brain
44	chr11:74701000-74705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:74701000-74705600	Weak transcription	Right Ventricle	heart
46	chr11:74701000-74705600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:74701000-74705800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:74701000-74705800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:74701000-74705800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:74701000-74705800	Weak transcription	Fetal Lung	lung

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