Variant report

Variant	rs2067434
Chromosome Location	chr2:191230346-191230347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr2:191230313-191231529	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191229901..191232788-chr2:191235811..191237515,2	MCF-7	breast:
2	chr2:191229465..191231914-chr2:191232411..191236009,3	K562	blood:

Variant related genes	Relation type
INPP1	TF binding region
ENSG00000151689	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11544940	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12471159	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693568	0.87[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1530225	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1530226	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2006980	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067446	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2582736	1.00[JPT][hapmap]
rs291430	0.80[ASN][1000 genomes]
rs291445	1.00[JPT][hapmap]
rs291447	1.00[JPT][hapmap]
rs291449	1.00[JPT][hapmap]
rs291458	1.00[JPT][hapmap]
rs291460	1.00[JPT][hapmap]
rs291468	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs35277625	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3791809	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs56044907	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6434387	0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6730620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7590991	0.88[CEU][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap]
rs909270	1.00[ASW][hapmap];0.96[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs909272	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9784054	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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	esv3409320	chr2:191230245-191231352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2067434	HIBCH	cis	Muscle Skeletal	GTEx
rs2067434	HIBCH	cis	lymphoblastoid	seeQTL
rs2067434	INPP1	cis	cerebellum	SCAN
rs2067434	INPP1	cis	parietal	SCAN
rs2067434	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs2067434	HIBCH	cis	multi-tissue	Pritchard
rs2067434	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs2067434	INPP1	cis	lymphoblastoid	seeQTL
rs2067434	HIBCH	cis	parietal	SCAN
rs2067434	MFSD6	cis	cerebellum	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
2	chr2:191214000-191230400	Weak transcription	Aorta	Aorta
3	chr2:191219400-191234000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:191219600-191243800	Weak transcription	Gastric	stomach
5	chr2:191223800-191236800	Weak transcription	Psoas Muscle	Psoas
6	chr2:191224000-191235600	Weak transcription	Spleen	Spleen
7	chr2:191224200-191230400	Weak transcription	Esophagus	oesophagus
8	chr2:191224800-191236200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:191225000-191230400	Weak transcription	Lung	lung
10	chr2:191225000-191232000	Weak transcription	Ovary	ovary
11	chr2:191225000-191232800	Weak transcription	HUVEC	blood vessel
12	chr2:191225000-191234200	Weak transcription	Right Ventricle	heart
13	chr2:191225000-191235600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:191225000-191235600	Weak transcription	Pancreas	Pancrea
15	chr2:191225000-191236400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:191225000-191237400	Weak transcription	Fetal Brain Female	brain
17	chr2:191225000-191237600	Weak transcription	Small Intestine	intestine
18	chr2:191225000-191242800	Weak transcription	Placenta	Placenta
19	chr2:191225200-191230400	Weak transcription	Fetal Intestine Small	intestine
20	chr2:191225200-191230400	Weak transcription	Fetal Stomach	stomach
21	chr2:191225200-191231000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:191225200-191231000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:191225200-191231800	Weak transcription	HSMMtube	muscle
24	chr2:191225200-191232000	Weak transcription	HepG2	liver
25	chr2:191225200-191232000	Weak transcription	Osteobl	bone
26	chr2:191225200-191233000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:191225200-191233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:191225200-191233800	Weak transcription	NHLF	lung
29	chr2:191225200-191234400	Weak transcription	K562	blood
30	chr2:191225200-191235200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:191225200-191235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:191225200-191235600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:191225200-191235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:191225200-191235600	Weak transcription	Colonic Mucosa	Colon
35	chr2:191225200-191235800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:191225200-191235800	Weak transcription	Brain Germinal Matrix	brain
37	chr2:191225200-191236200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:191225200-191236400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:191225200-191236600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:191225200-191236600	Weak transcription	NH-A	brain
41	chr2:191225200-191237000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:191225200-191237000	Weak transcription	Stomach Mucosa	stomach
43	chr2:191225200-191237000	Weak transcription	HMEC	breast
44	chr2:191225200-191237200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:191225200-191237200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:191225200-191238200	Weak transcription	NHEK	skin
47	chr2:191225200-191242800	Weak transcription	Fetal Kidney	kidney
48	chr2:191225200-191244000	Weak transcription	Fetal Heart	heart
49	chr2:191225200-191244800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:191225400-191231200	Weak transcription	Fetal Lung	lung

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