Variant report

Variant	rs134676
Chromosome Location	chr22:29503191-29503192
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	chr22:29501694..29504498-chr22:29505707..29509646,4	K562	blood:
2	chr22:29500127..29504007-chr22:29504582..29508523,3	K562	blood:

Variant related genes	Relation type
ENSG00000226772	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12329960	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134577	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134588	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs134596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134598	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs134608	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs134622	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs134630	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs134631	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134641	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134644	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134653	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134660	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs134664	0.84[AMR][1000 genomes]
rs134666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs134669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs134670	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs134672	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs134677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4347951	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5752864	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5752867	0.83[YRI][hapmap]
rs5752868	0.83[YRI][hapmap]
rs713861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7292708	0.80[EUR][1000 genomes]
rs9613819	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv3337434	chr22:29503132-29503556	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs134676	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
2	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
4	chr22:29488400-29521200	Weak transcription	Lung	lung
5	chr22:29490000-29505200	Weak transcription	Aorta	Aorta
6	chr22:29490000-29514000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr22:29490200-29503600	Weak transcription	HMEC	breast
8	chr22:29490400-29508000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
10	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
11	chr22:29491600-29522200	Weak transcription	Liver	Liver
12	chr22:29491800-29503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:29491800-29504400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr22:29491800-29505400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr22:29492000-29503800	Weak transcription	NHDF-Ad	bronchial
16	chr22:29493200-29503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:29493200-29504200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:29493200-29504400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:29493200-29505400	Weak transcription	Right Ventricle	heart
20	chr22:29493200-29511600	Weak transcription	Gastric	stomach
21	chr22:29493200-29521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr22:29493200-29521200	Weak transcription	Pancreas	Pancrea
23	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr22:29493400-29505400	Weak transcription	Small Intestine	intestine
25	chr22:29493400-29516400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr22:29493800-29511600	Weak transcription	Fetal Heart	heart
27	chr22:29494200-29505400	Weak transcription	HepG2	liver
28	chr22:29494600-29506000	Weak transcription	Left Ventricle	heart
29	chr22:29495000-29504800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:29495000-29505600	Weak transcription	Right Atrium	heart
31	chr22:29495000-29509200	Weak transcription	Fetal Brain Female	brain
32	chr22:29495200-29503800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:29495200-29505400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:29495200-29505400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr22:29495200-29505800	Weak transcription	Adipose Nuclei	Adipose
36	chr22:29495200-29516600	Weak transcription	Esophagus	oesophagus
37	chr22:29495400-29503600	Weak transcription	NHEK	skin
38	chr22:29495400-29505400	Weak transcription	Fetal Intestine Large	intestine
39	chr22:29495600-29504200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:29496000-29504000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr22:29496600-29505600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr22:29498000-29503600	Weak transcription	Placenta	Placenta
43	chr22:29498000-29505400	Weak transcription	Fetal Kidney	kidney
44	chr22:29498400-29505800	Weak transcription	Fetal Thymus	thymus
45	chr22:29498800-29509200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:29499000-29504200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr22:29499400-29504000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr22:29499400-29506000	Weak transcription	Thymus	Thymus
49	chr22:29499400-29508000	Weak transcription	Brain Angular Gyrus	brain
50	chr22:29499400-29508000	Weak transcription	Brain Cingulate Gyrus	brain

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