Variant report

Variant	rs7512337
Chromosome Location	chr1:185335532-185335533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:185334258..185337021-chr1:185337463..185339197,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10157232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158623	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174	0.88[CEU][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs10752947	0.87[GIH][hapmap]
rs10752948	0.97[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs10798003	0.81[CEU][hapmap]
rs10911700	0.81[CEU][hapmap]
rs10911702	0.89[CEU][hapmap];0.86[GIH][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs10911704	0.92[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs10911707	0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs10911708	0.92[EUR][1000 genomes]
rs12026391	0.89[CEU][hapmap];0.89[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs12041704	0.81[CEU][hapmap]
rs12044943	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17641003	0.91[EUR][1000 genomes]
rs1889976	0.81[CEU][hapmap]
rs2207518	0.98[ASN][1000 genomes]
rs2207519	0.98[ASN][1000 genomes]
rs2224027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281416	0.83[EUR][1000 genomes]
rs2378909	0.80[EUR][1000 genomes]
rs2378910	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs6656019	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6665186	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs66845254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685627	0.81[EUR][1000 genomes]
rs6687774	0.82[CHD][hapmap];0.83[GIH][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs6689206	0.97[ASN][1000 genomes]
rs7123	0.89[GIH][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs726567	0.92[CEU][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs7531487	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7539575	0.81[CEU][hapmap]
rs7545878	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548599	0.98[ASN][1000 genomes]
rs883753	0.81[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv2756872	chr1:185293197-185345771	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2758981	chr1:185293197-185345771	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1008247	chr1:185321360-185345771	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7512337	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185319600-185335600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:185325400-185336400	Weak transcription	Right Atrium	heart
3	chr1:185330600-185335600	Weak transcription	HUVEC	blood vessel
4	chr1:185334200-185336000	Enhancers	Stomach Mucosa	stomach
5	chr1:185334800-185336600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:185334800-185342400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:185335000-185337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:185335000-185345000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:185335200-185335800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:185335200-185335800	Enhancers	Fetal Intestine Large	intestine
11	chr1:185335200-185335800	Enhancers	Fetal Intestine Small	intestine
12	chr1:185335200-185336600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:185335200-185336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:185335200-185336600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr1:185335200-185336600	Enhancers	HMEC	breast
16	chr1:185335200-185336800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:185335200-185336800	Enhancers	NHEK	skin
18	chr1:185335200-185337000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:185335400-185335600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:185335400-185335600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:185335400-185336400	Weak transcription	Esophagus	oesophagus
22	chr1:185335400-185336600	Enhancers	Hela-S3	cervix

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