Variant report

Variant	rs7603849
Chromosome Location	chr2:191438741-191438742
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191413004..191414624-chr2:191437480..191439283,2	MCF-7	breast:
2	chr2:191433891..191435681-chr2:191435734..191438832,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10165399	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173771	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11680758	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12611871	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13006708	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410230	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28452331	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321393	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853513	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6434402	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724607	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598979	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9630991	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9967829	0.83[YRI][hapmap]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7603849	INPP1	cis	cerebellum	SCAN
rs7603849	HIBCH	cis	lymphoblastoid	seeQTL
rs7603849	HIBCH	cis	Muscle Skeletal	GTEx
rs7603849	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs7603849	MFSD6	cis	cerebellum	SCAN
rs7603849	TMEM194B	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191411000-191443000	Weak transcription	Right Atrium	heart
2	chr2:191427200-191443000	Weak transcription	Right Ventricle	heart
3	chr2:191427600-191441400	Weak transcription	Aorta	Aorta
4	chr2:191433000-191440600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:191434600-191439400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:191434600-191439400	Enhancers	HMEC	breast
7	chr2:191434600-191439400	Enhancers	NHEK	skin
8	chr2:191435000-191439400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:191435400-191443000	Weak transcription	Left Ventricle	heart
10	chr2:191436200-191439400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:191436400-191439200	Enhancers	Fetal Stomach	stomach
12	chr2:191436400-191439200	Enhancers	Hela-S3	cervix
13	chr2:191436400-191439400	Enhancers	A549	lung
14	chr2:191436800-191439800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:191436800-191442800	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:191436800-191443000	Weak transcription	Brain Anterior Caudate	brain
17	chr2:191436800-191457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:191437400-191442800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:191437800-191439400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:191438000-191439400	Enhancers	Colon Smooth Muscle	Colon
21	chr2:191438400-191440400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:191438400-191440800	Weak transcription	Fetal Heart	heart
23	chr2:191438400-191441000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:191438400-191441400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:191438400-191442600	Weak transcription	Stomach Mucosa	stomach
26	chr2:191438400-191442800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:191438400-191442800	Weak transcription	Fetal Intestine Small	intestine
28	chr2:191438400-191442800	Weak transcription	Fetal Lung	lung
29	chr2:191438400-191442800	Weak transcription	Small Intestine	intestine
30	chr2:191438600-191439000	Weak transcription	K562	blood
31	chr2:191438600-191440400	Weak transcription	Rectal Smooth Muscle	rectum

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