Variant report

Variant	rs291431
Chromosome Location	chr2:191199530-191199531
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:191199325..191201599-chr2:191214239..191215795,2	K562	blood:
2	chr2:191199325..191202279-chr2:191214239..191216760,3	K562	blood:
3	chr17:56734926..56736990-chr2:191199017..191200592,2	MCF-7	breast:
4	chr2:191183313..191184945-chr2:191199302..191200877,2	MCF-7	breast:
5	chr2:191198145..191200650-chr2:191242690..191244565,2	K562	blood:
6	chr2:191198190..191200856-chr2:191203252..191205051,3	K562	blood:
7	chr2:191199049..191200725-chr2:191512417..191514658,2	K562	blood:
8	chr2:191193453..191196089-chr2:191197942..191200892,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction
ENSG00000138386	Chromatin interaction
ENSG00000198130	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1058180	0.81[LWK][hapmap];0.89[YRI][hapmap]
rs12693568	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13006833	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs172366	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176712	0.81[LWK][hapmap];0.89[YRI][hapmap]
rs1866849	0.82[YRI][hapmap]
rs1876877	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs188339	0.83[LWK][hapmap];0.89[YRI][hapmap]
rs2136566	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2136568	0.84[YRI][hapmap]
rs2136569	1.00[CEU][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2256301	0.89[YRI][hapmap]
rs2582735	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2582736	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2582742	0.89[YRI][hapmap]
rs2582743	0.80[YRI][hapmap]
rs2582746	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2582762	0.81[LWK][hapmap];0.82[YRI][hapmap]
rs2582770	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664241	0.89[YRI][hapmap]
rs2664251	1.00[CEU][hapmap];0.93[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664252	0.96[CEU][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664253	1.00[CEU][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664256	0.88[YRI][hapmap]
rs2664259	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2664260	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs291418	0.82[YRI][hapmap]
rs291419	0.81[YRI][hapmap]
rs291424	0.89[YRI][hapmap]
rs291427	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291428	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291429	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291430	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs291436	0.86[YRI][hapmap]
rs291441	0.89[YRI][hapmap]
rs291442	0.89[YRI][hapmap]
rs291444	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs291445	1.00[CEU][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs291447	1.00[CEU][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs291448	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs291449	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs291453	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs291458	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291459	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291460	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291461	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291462	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291464	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs291466	0.96[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs291468	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs291470	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291472	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2919677	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6434387	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs906916	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs291431	HIBCH	cis	parietal	SCAN
rs291431	HIBCH	cis	Stomach	GTEx
rs291431	HIBCH	cis	lung	GTEx
rs291431	HIBCH	cis	multi-tissue	Pritchard
rs291431	INPP1	cis	cerebellum	SCAN
rs291431	HIBCH	cis	Thyroid	GTEx
rs291431	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs291431	HIBCH	cis	Heart Left Ventricle	GTEx
rs291431	INPP1	cis	lymphoblastoid	seeQTL
rs291431	HIBCH	cis	Muscle Skeletal	GTEx
rs291431	MFSD6	cis	cerebellum	SCAN
rs291431	HIBCH	cis	lymphoblastoid	seeQTL
rs291431	HIBCH	cis	cerebellum	SCAN
rs291431	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs291431	INPP1	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191191600-191208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:191197800-191200800	Enhancers	Fetal Intestine Small	intestine
3	chr2:191198200-191200000	Flanking Active TSS	A549	lung
4	chr2:191198200-191200200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:191198200-191200200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr2:191198200-191200800	Enhancers	Hela-S3	cervix
7	chr2:191198400-191199800	Flanking Active TSS	Liver	Liver
8	chr2:191198400-191207400	Weak transcription	Spleen	Spleen
9	chr2:191198400-191207600	Weak transcription	NHLF	lung
10	chr2:191198600-191208000	Weak transcription	Aorta	Aorta
11	chr2:191198800-191199600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:191198800-191200000	Enhancers	Adipose Nuclei	Adipose
13	chr2:191198800-191208000	Weak transcription	Ovary	ovary
14	chr2:191199000-191199600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:191199000-191199600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:191199000-191199800	Flanking Active TSS	HUVEC	blood vessel
17	chr2:191199000-191200200	Weak transcription	Pancreas	Pancrea
18	chr2:191199200-191199600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:191199200-191199600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:191199200-191199600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:191199200-191199600	Enhancers	HMEC	breast
22	chr2:191199200-191199600	Flanking Active TSS	NHEK	skin
23	chr2:191199200-191200000	Active TSS	Duodenum Mucosa	Duodenum
24	chr2:191199400-191199600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:191199400-191199600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr2:191199400-191199600	Flanking Active TSS	K562	blood
27	chr2:191199400-191199800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:191199400-191199800	Active TSS	HepG2	liver
29	chr2:191199400-191200000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr2:191199400-191200000	Active TSS	Fetal Intestine Large	intestine
31	chr2:191199400-191200000	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr2:191199400-191200800	Enhancers	Stomach Mucosa	stomach

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