Variant report

Variant	rs136337
Chromosome Location	chr22:31160539-31160540
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31158390..31161654-chr22:31315788..31318935,3	MCF-7	breast:
2	chr22:31159331..31161030-chr22:31286318..31287902,10	MCF-7	breast:
3	chr22:31158219..31160716-chr22:31317751..31319382,2	K562	blood:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction
ENSG00000235989	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs136316	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs136317	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs136339	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs136340	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs136343	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs136344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs136345	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs136346	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs136348	0.83[ASN][1000 genomes]
rs136351	0.93[ASN][1000 genomes]
rs136354	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs136355	0.90[ASN][1000 genomes]
rs136356	0.91[ASN][1000 genomes]
rs136380	0.86[ASN][1000 genomes]
rs136383	0.86[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs136388	0.82[ASN][1000 genomes]
rs4820025	0.85[ASN][1000 genomes]
rs4820897	0.90[ASN][1000 genomes]
rs4820899	0.92[ASN][1000 genomes]
rs55765123	0.83[ASN][1000 genomes]
rs5749156	0.80[ASN][1000 genomes]
rs5749157	0.85[ASN][1000 genomes]
rs5749161	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs5753281	0.95[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs5753285	0.85[ASN][1000 genomes]
rs5753287	0.82[ASN][1000 genomes]
rs5753290	0.82[ASN][1000 genomes]
rs5753292	0.83[ASN][1000 genomes]
rs5753294	0.86[ASN][1000 genomes]
rs5753295	0.86[ASN][1000 genomes]
rs5753297	0.86[ASN][1000 genomes]
rs5753298	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs5753299	0.87[ASN][1000 genomes]
rs5753300	0.90[ASN][1000 genomes]
rs5994335	0.81[ASN][1000 genomes]
rs5997737	0.82[ASN][1000 genomes]
rs5997762	0.92[ASN][1000 genomes]
rs61537428	0.85[ASN][1000 genomes]
rs62235892	0.82[ASN][1000 genomes]
rs8184976	0.85[ASN][1000 genomes]
rs909705	0.82[ASN][1000 genomes]
rs926340	0.93[ASN][1000 genomes]
rs9609078	0.93[YRI][hapmap];0.81[AFR][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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv2763260	chr22:31141521-31185000	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs136337	TFIP11	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31140000-31185400	Weak transcription	Fetal Brain Female	brain
2	chr22:31150000-31173400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr22:31151200-31162600	Weak transcription	Spleen	Spleen
4	chr22:31151200-31167600	Weak transcription	Brain Substantia Nigra	brain
5	chr22:31151400-31167400	Weak transcription	Brain Hippocampus Middle	brain
6	chr22:31151400-31172800	Weak transcription	Brain Anterior Caudate	brain
7	chr22:31151600-31167200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr22:31151600-31167400	Weak transcription	Brain Angular Gyrus	brain
9	chr22:31155000-31167600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr22:31160000-31160600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr22:31160000-31160600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr22:31160000-31160600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:31160000-31160600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:31160000-31160600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr22:31160000-31160600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr22:31160000-31160600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr22:31160000-31160600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:31160000-31160600	Enhancers	HMEC	breast
19	chr22:31160000-31160800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:31160000-31160800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr22:31160000-31160800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:31160000-31160800	Enhancers	NHEK	skin
23	chr22:31160200-31163400	Weak transcription	Fetal Intestine Small	intestine
24	chr22:31160200-31167800	Weak transcription	Right Atrium	heart
25	chr22:31160200-31172600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:31160200-31177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr22:31160400-31160600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:31160400-31160600	Flanking Active TSS	A549	lung
29	chr22:31160400-31160600	Flanking Active TSS	Hela-S3	cervix

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