Variant report

Variant	rs134690
Chromosome Location	chr22:29511729-29511730
allele	A/G
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	HNF4A	chr22:29511638-29512064	HepG2	liver:	n/a	chr22:29511833-29511848
2	HDAC2	chr22:29511692-29512034	HepG2	liver:	n/a	n/a
3	CEBPB	chr22:29511729-29511977	HepG2	liver:	n/a	n/a
4	HNF4A	chr22:29511611-29512089	HepG2	liver:	n/a	chr22:29511833-29511848
5	EP300	chr22:29511659-29512078	HepG2	liver:	n/a	n/a
6	HNF4G	chr22:29511631-29512079	HepG2	liver:	n/a	chr22:29511832-29511847
7	HNF4G	chr22:29511617-29512053	HepG2	liver:	n/a	chr22:29511832-29511847
8	HNF4A	chr22:29511614-29512250	HepG2	liver:	n/a	chr22:29511833-29511848

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29468837..29470571-chr22:29509772..29512355,2	K562	blood:

Variant related genes	Relation type
ENSG00000226772	TF binding region
ENSG00000183762	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs126077	0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs134566	0.82[EUR][1000 genomes]
rs134570	0.82[EUR][1000 genomes]
rs134581	0.81[EUR][1000 genomes]
rs134583	0.81[EUR][1000 genomes]
rs134585	0.81[EUR][1000 genomes]
rs134587	0.81[EUR][1000 genomes]
rs134589	0.84[EUR][1000 genomes]
rs134590	0.84[EUR][1000 genomes]
rs134591	0.84[EUR][1000 genomes]
rs134597	0.82[EUR][1000 genomes]
rs134614	0.86[EUR][1000 genomes]
rs134615	0.86[EUR][1000 genomes]
rs134627	0.87[EUR][1000 genomes]
rs134642	0.87[EUR][1000 genomes]
rs134646	0.87[EUR][1000 genomes]
rs134647	0.87[EUR][1000 genomes]
rs134649	0.87[EUR][1000 genomes]
rs134651	0.87[EUR][1000 genomes]
rs134652	0.87[EUR][1000 genomes]
rs134655	0.81[EUR][1000 genomes]
rs134665	0.94[EUR][1000 genomes]
rs134678	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs134679	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs134680	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs134681	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134683	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134684	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134686	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs134688	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134689	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134691	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978046	0.95[EUR][1000 genomes]
rs2049937	0.87[EUR][1000 genomes]
rs2049938	0.87[EUR][1000 genomes]
rs4823015	0.93[EUR][1000 genomes]
rs5752870	0.91[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs134690	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
3	chr22:29488400-29521200	Weak transcription	Lung	lung
4	chr22:29490000-29514000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:29490400-29539800	Weak transcription	Psoas Muscle	Psoas
6	chr22:29491200-29521200	Weak transcription	Colonic Mucosa	Colon
7	chr22:29491600-29522200	Weak transcription	Liver	Liver
8	chr22:29493200-29521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr22:29493200-29521200	Weak transcription	Pancreas	Pancrea
10	chr22:29493200-29536400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr22:29493400-29516400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr22:29495200-29516600	Weak transcription	Esophagus	oesophagus
13	chr22:29504800-29521800	Weak transcription	NHEK	skin
14	chr22:29505000-29514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:29505000-29521000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:29505800-29533000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr22:29506000-29514000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr22:29506000-29521000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr22:29506200-29512200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:29506400-29511800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:29506400-29513800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:29506400-29514000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:29506400-29516200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:29506400-29516400	Weak transcription	Adipose Nuclei	Adipose
25	chr22:29506400-29516400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:29506400-29520000	Weak transcription	Fetal Thymus	thymus
27	chr22:29506400-29521000	Weak transcription	Right Ventricle	heart
28	chr22:29506400-29522200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:29506400-29522400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr22:29506600-29511800	Weak transcription	Stomach Mucosa	stomach
31	chr22:29506600-29514000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr22:29507000-29512200	Weak transcription	Fetal Kidney	kidney
33	chr22:29507000-29520200	Weak transcription	Thymus	Thymus
34	chr22:29507200-29511800	Weak transcription	Right Atrium	heart
35	chr22:29508200-29537200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr22:29509000-29514000	Weak transcription	Placenta	Placenta
37	chr22:29509200-29512200	Strong transcription	Dnd41	blood
38	chr22:29509400-29524400	Weak transcription	NHDF-Ad	bronchial
39	chr22:29509400-29525000	Weak transcription	Osteobl	bone
40	chr22:29509600-29513800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:29509800-29516400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr22:29510000-29511800	Weak transcription	Fetal Lung	lung
43	chr22:29510000-29512200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:29510000-29516200	Weak transcription	Brain Angular Gyrus	brain
45	chr22:29510000-29516400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr22:29510000-29519800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:29510000-29525400	Weak transcription	Brain Anterior Caudate	brain
48	chr22:29510000-29528200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr22:29510000-29530800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:29510000-29531000	Weak transcription	Brain Hippocampus Middle	brain

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