Variant report

Variant	rs594144
Chromosome Location	chr11:74726828-74726829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74725568..74728361-chr11:74730920..74733863,2	MCF-7	breast:
2	chr11:74714625..74716213-chr11:74725401..74727829,2	K562	blood:
3	chr11:74720292..74723058-chr11:74725364..74728769,4	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10899066	0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs11605604	0.88[JPT][hapmap]
rs12363224	0.88[JPT][hapmap]
rs1282460	0.88[JPT][hapmap]
rs1282692	0.82[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs1282695	0.85[AFR][1000 genomes]
rs1292895	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs1297319	0.88[JPT][hapmap]
rs1583342	0.93[ASW][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];0.85[MKK][hapmap]
rs2033532	0.80[ASW][hapmap];0.82[JPT][hapmap]
rs2851136	0.91[ASN][1000 genomes]
rs2919057	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4245439	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4335576	0.86[CHB][hapmap]
rs4373962	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4592443	0.93[AFR][1000 genomes]
rs473256	0.80[ASW][hapmap];0.88[JPT][hapmap]
rs480840	0.93[ASW][hapmap];0.80[CEU][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.82[LWK][hapmap];0.82[TSI][hapmap]
rs488115	0.86[CHD][hapmap];0.95[MEX][hapmap];0.80[AMR][1000 genomes]
rs4944066	0.87[AFR][1000 genomes]
rs4944067	0.89[CHD][hapmap];0.82[LWK][hapmap];0.94[MKK][hapmap];0.84[TSI][hapmap]
rs511890	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs512780	0.93[ASW][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs519741	0.93[ASW][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.95[LWK][hapmap];0.89[MKK][hapmap];0.83[AFR][1000 genomes]
rs527529	0.88[JPT][hapmap]
rs529488	0.80[ASW][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap]
rs537054	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs538502	0.88[JPT][hapmap]
rs543244	0.93[ASW][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.81[MKK][hapmap]
rs550980	0.88[JPT][hapmap]
rs561589	0.88[JPT][hapmap]
rs567956	0.93[ASW][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.82[LWK][hapmap];0.85[MKK][hapmap]
rs568558	0.88[JPT][hapmap]
rs568758	0.82[CHD][hapmap];0.93[JPT][hapmap]
rs577063	0.81[ASN][1000 genomes]
rs590105	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs599722	0.93[ASW][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.95[LWK][hapmap];0.89[MKK][hapmap];0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs603062	0.88[JPT][hapmap]
rs614832	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs624786	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs625268	0.88[JPT][hapmap]
rs641584	0.87[JPT][hapmap]
rs643807	0.93[ASW][hapmap];0.80[CEU][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.88[JPT][hapmap];0.82[LWK][hapmap];0.85[MKK][hapmap];0.89[TSI][hapmap]
rs646287	0.88[JPT][hapmap]
rs688665	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs7121374	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs7938876	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9444	0.85[ASW][hapmap];0.81[JPT][hapmap];0.82[LWK][hapmap];0.89[MKK][hapmap]
rs997465	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs594144	XRRA1	cis	Whole Blood	GTEx
rs594144	XRRA1	cis	cerebellum	SCAN
rs594144	RNF169	cis	cerebellum	SCAN
rs594144	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs594144	XRRA1	cis	lymphoblastoid	seeQTL
rs594144	KRTAP5-10	cis	parietal	SCAN
rs594144	RNF169	cis	lymphoblastoid	seeQTL
rs594144	XRRA1	cis	parietal	SCAN
rs594144	PLEKHB1	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74712000-74728200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr11:74718000-74733800	Weak transcription	Brain Substantia Nigra	brain
3	chr11:74718000-74734200	Weak transcription	Right Ventricle	heart
4	chr11:74718200-74729200	Weak transcription	Gastric	stomach
5	chr11:74718400-74729800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:74719400-74728600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:74721600-74733400	Weak transcription	Pancreas	Pancrea
8	chr11:74721600-74734200	Weak transcription	Brain Angular Gyrus	brain
9	chr11:74721600-74734200	Weak transcription	Brain Anterior Caudate	brain
10	chr11:74721600-74734200	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:74721600-74734200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:74721600-74734200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:74721800-74728400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:74721800-74729400	Weak transcription	Fetal Intestine Small	intestine
15	chr11:74722800-74730200	Weak transcription	Fetal Intestine Large	intestine
16	chr11:74723400-74730200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:74723600-74729400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:74723600-74731800	Weak transcription	Left Ventricle	heart
19	chr11:74723800-74729200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:74723800-74733800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:74724000-74727000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:74724000-74727400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:74724000-74734200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:74724200-74730400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:74724400-74727400	Enhancers	Fetal Muscle Leg	muscle
26	chr11:74724400-74730200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr11:74724600-74730800	Weak transcription	Fetal Stomach	stomach
28	chr11:74724600-74735400	Weak transcription	Aorta	Aorta
29	chr11:74724800-74727000	Weak transcription	Fetal Thymus	thymus
30	chr11:74725000-74728200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:74725000-74730200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:74725200-74727600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr11:74725200-74728000	Weak transcription	Spleen	Spleen
34	chr11:74725400-74727200	Weak transcription	Dnd41	blood
35	chr11:74725400-74729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:74725400-74731000	Weak transcription	Liver	Liver
37	chr11:74725600-74727200	Weak transcription	Primary T cells from cord blood	blood
38	chr11:74725600-74728600	Weak transcription	Primary B cells from cord blood	blood
39	chr11:74725600-74728600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:74725600-74730200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:74725600-74737000	Weak transcription	Thymus	Thymus
42	chr11:74726000-74732000	Weak transcription	Fetal Heart	heart
43	chr11:74726200-74727600	Enhancers	Psoas Muscle	Psoas
44	chr11:74726600-74746400	Weak transcription	GM12878-XiMat	blood
45	chr11:74726800-74727200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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