Variant report

Variant	rs7585471
Chromosome Location	chr2:187498562-187498563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187496182..187500936-chr2:187502647..187507205,5	K562	blood:
2	chr2:187453625..187456390-chr2:187498410..187502710,4	K562	blood:
3	chr2:187473194..187474789-chr2:187497969..187500920,2	K562	blood:
4	chr2:187497162..187500369-chr2:187500989..187503573,4	MCF-7	breast:
5	chr2:187498414..187500936-chr2:187502647..187504197,2	K562	blood:

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10165992	0.88[CHB][hapmap]
rs1072901	0.88[CHB][hapmap]
rs10931253	0.87[ASN][1000 genomes]
rs12475476	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[EUR][1000 genomes]
rs12618322	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12620821	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs13020260	0.88[CHB][hapmap]
rs1448427	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17406229	0.87[ASN][1000 genomes]
rs17406346	0.88[CHB][hapmap]
rs2121975	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs2121976	0.88[CHB][hapmap]
rs2276562	0.88[EUR][1000 genomes]
rs2595395	0.88[CHB][hapmap]
rs2682873	0.88[CHB][hapmap]
rs3213964	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap]
rs34840521	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35348196	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35540241	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3768785	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3816375	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4667107	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4667108	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs55781198	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55961288	0.82[ASN][1000 genomes]
rs56222785	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62173044	0.84[EUR][1000 genomes]
rs62196185	0.83[EUR][1000 genomes]
rs6705757	1.00[CHB][hapmap];0.96[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs718259	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs7585442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs930657	1.00[CHB][hapmap];0.91[CHD][hapmap]

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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7585471	TFPI	cis	parietal	SCAN
rs7585471	ORMDL1	cis	cerebellum	SCAN
rs7585471	ITGAV	cis	cerebellum	SCAN
rs7585471	MSTN	cis	parietal	SCAN
rs7585471	FSIP2	cis	parietal	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187456200-187508600	Weak transcription	Esophagus	oesophagus
2	chr2:187456200-187533000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:187456400-187504000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:187456600-187514000	Weak transcription	Thymus	Thymus
5	chr2:187456600-187520000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:187456800-187534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:187457200-187506000	Weak transcription	Liver	Liver
8	chr2:187457200-187533800	Weak transcription	Spleen	Spleen
9	chr2:187458000-187511400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:187458000-187529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:187459400-187505600	Weak transcription	NHLF	lung
12	chr2:187460200-187506200	Weak transcription	Small Intestine	intestine
13	chr2:187462600-187500600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:187462800-187515400	Weak transcription	Gastric	stomach
15	chr2:187464800-187536200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:187465800-187529200	Weak transcription	Dnd41	blood
17	chr2:187466800-187533200	Weak transcription	Colonic Mucosa	Colon
18	chr2:187467200-187528600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:187467400-187515800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:187467600-187506000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:187468800-187504000	Weak transcription	NHDF-Ad	bronchial
22	chr2:187469000-187501800	Weak transcription	Fetal Intestine Small	intestine
23	chr2:187471400-187502200	Weak transcription	NHEK	skin
24	chr2:187471600-187521000	Weak transcription	Aorta	Aorta
25	chr2:187476000-187519800	Weak transcription	K562	blood
26	chr2:187476600-187508600	Weak transcription	Lung	lung
27	chr2:187476800-187536200	Weak transcription	Fetal Brain Male	brain
28	chr2:187477400-187502400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:187478600-187502600	Weak transcription	GM12878-XiMat	blood
30	chr2:187482200-187533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:187482800-187501200	Weak transcription	Ovary	ovary
32	chr2:187482800-187501200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:187482800-187506000	Weak transcription	Fetal Kidney	kidney
34	chr2:187482800-187519600	Weak transcription	Brain Anterior Caudate	brain
35	chr2:187482800-187527800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:187482800-187533200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:187482800-187533600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:187482800-187533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:187482800-187533800	Weak transcription	Psoas Muscle	Psoas
40	chr2:187483200-187502400	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:187483400-187519800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:187486400-187506000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:187486600-187531400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:187487200-187506200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:187487800-187510800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:187489200-187501200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:187489200-187502400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:187489200-187503000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr2:187489200-187504000	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:187489200-187504000	Weak transcription	Right Ventricle	heart

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