Variant report

Variant	rs291458
Chromosome Location	chr2:191181481-191181482
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191170524..191172788-chr2:191180838..191183387,2	K562	blood:
2	chr2:191180171..191181801-chr2:191182417..191184632,2	K562	blood:
3	chr2:191176802..191182284-chr2:191182793..191185787,7	MCF-7	breast:
4	chr2:191178498..191181645-chr2:191182317..191185126,4	MCF-7	breast:
5	chr2:191170524..191173911-chr2:191180343..191183387,4	K562	blood:

Variant related genes	Relation type
ENSG00000198130	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11544940	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs12471159	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs12693568	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13006833	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1530226	1.00[JPT][hapmap]
rs172366	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1866849	0.85[YRI][hapmap]
rs1876877	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2067434	1.00[JPT][hapmap]
rs2067446	1.00[JPT][hapmap]
rs2136566	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2136569	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2256301	0.82[YRI][hapmap]
rs2582735	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2582736	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2582743	0.84[YRI][hapmap]
rs2582744	0.81[YRI][hapmap]
rs2582746	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582766	0.83[EUR][1000 genomes]
rs2582770	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2664251	1.00[CEU][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2664252	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2664253	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2664256	0.83[YRI][hapmap]
rs2664259	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2664260	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs291413	0.82[YRI][hapmap]
rs291418	0.85[YRI][hapmap]
rs291427	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291428	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291429	0.96[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291430	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291431	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]
rs291435	0.89[YRI][hapmap]
rs291444	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291448	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291449	1.00[ASW][hapmap];1.00[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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291451	0.91[LWK][hapmap];0.89[YRI][hapmap]
rs291453	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs291459	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291460	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291461	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291462	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs291463	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs291464	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs291466	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs291468	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs291470	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291472	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2919677	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3749016	0.82[LWK][hapmap]
rs3791789	0.81[LWK][hapmap]
rs3791809	0.90[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6434387	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7590991	1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs906916	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs909270	1.00[JPT][hapmap]

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs291458	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs291458	HIBCH	cis	Lymphoblastoid	GTEx
rs291458	HIBCH	cis	Thyroid	GTEx
rs291458	HIBCH	cis	Muscle Skeletal	GTEx
rs291458	HIBCH	cis	lung	GTEx
rs291458	INPP1	cis	parietal	SCAN
rs291458	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs291458	HIBCH	cis	lymphoblastoid	seeQTL
rs291458	HIBCH	cis	parietal	SCAN
rs291458	HIBCH	cis	multi-tissue	Pritchard
rs291458	MFSD6	cis	cerebellum	SCAN
rs291458	HIBCH	cis	cerebellum	SCAN
rs291458	INPP1	cis	cerebellum	SCAN
rs291458	INPP1	cis	lymphoblastoid	seeQTL
rs291458	HIBCH	cis	Heart Left Ventricle	GTEx
rs291458	HIBCH	cis	Stomach	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191115600-191182000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:191116600-191183200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:191117400-191183600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:191135600-191183200	Weak transcription	Fetal Brain Male	brain
5	chr2:191137400-191183200	Weak transcription	A549	lung
6	chr2:191141800-191183000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:191143000-191183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:191145600-191183200	Weak transcription	HUVEC	blood vessel
9	chr2:191145800-191183000	Weak transcription	HMEC	breast
10	chr2:191146000-191181800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:191149200-191183200	Weak transcription	Fetal Kidney	kidney
12	chr2:191151000-191182800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:191151000-191183000	Weak transcription	Esophagus	oesophagus
14	chr2:191151400-191183000	Weak transcription	Gastric	stomach
15	chr2:191151400-191183000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:191151400-191183600	Weak transcription	Thymus	Thymus
17	chr2:191153400-191182800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:191161400-191183600	Weak transcription	Ovary	ovary
19	chr2:191162200-191182200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:191165400-191183000	Weak transcription	Fetal Brain Female	brain
21	chr2:191166200-191183200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:191166600-191182800	Weak transcription	Right Atrium	heart
23	chr2:191167000-191183000	Weak transcription	Brain Germinal Matrix	brain
24	chr2:191167200-191182800	Weak transcription	Right Ventricle	heart
25	chr2:191167600-191183200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr2:191168000-191183000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:191168000-191183200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:191168600-191183000	Weak transcription	Fetal Lung	lung
29	chr2:191171400-191183000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:191171600-191182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:191171600-191183000	Weak transcription	Lung	lung
32	chr2:191171800-191182800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:191172600-191183600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:191173600-191183000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:191173800-191183200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:191174400-191181600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:191174800-191183000	Weak transcription	Left Ventricle	heart
38	chr2:191175000-191182800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:191175000-191182800	Weak transcription	Fetal Thymus	thymus
40	chr2:191175000-191183000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:191175400-191182800	Weak transcription	Fetal Intestine Large	intestine
42	chr2:191175600-191183000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:191175600-191183000	Weak transcription	Placenta	Placenta
44	chr2:191175600-191183200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:191175600-191183200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:191175800-191181600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:191175800-191183000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:191175800-191183000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:191175800-191183000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:191177000-191181600	Weak transcription	Primary T cells from cord blood	blood

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