Variant report

Variant	rs7636469
Chromosome Location	chr3:141045917-141045918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141044888..141047671-chr3:141061362..141063749,2	K562	blood:
2	chr3:141041057..141042632-chr3:141043258..141046046,3	K562	blood:
3	chr3:141044600..141047576-chr3:141085948..141088845,2	MCF-7	breast:
4	chr3:141044721..141047194-chr3:141049083..141050797,2	MCF-7	breast:
5	chr3:141039246..141041053-chr3:141044683..141046935,2	K562	blood:
6	chr3:141043965..141046482-chr3:141049207..141051849,3	K562	blood:
7	chr3:141038218..141041053-chr3:141044225..141046935,2	K562	blood:

Variant related genes	Relation type
ENSG00000177311	Chromatin interaction
ENSG00000249417	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1511380	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs17787621	1.00[ASN][1000 genomes]
rs1983235	0.96[CEU][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4132036	1.00[ASN][1000 genomes]
rs4325905	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs56054141	1.00[ASN][1000 genomes]
rs59539710	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6765857	0.96[CEU][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6771916	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6777886	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6795197	1.00[CEU][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]
rs6795377	1.00[CEU][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]
rs7616781	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs9829470	0.92[YRI][hapmap]
rs9843461	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv460871	chr3:141027614-141074962	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv591893	chr3:141027614-141074962	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141031800-141047400	Weak transcription	Right Ventricle	heart
2	chr3:141040600-141049000	Weak transcription	Hela-S3	cervix
3	chr3:141040600-141049200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:141043200-141046000	Weak transcription	K562	blood
5	chr3:141043200-141046800	Weak transcription	Colonic Mucosa	Colon
6	chr3:141043400-141047000	Weak transcription	Small Intestine	intestine
7	chr3:141044400-141046200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:141044600-141046000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:141044600-141046200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:141044600-141046400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:141044800-141046200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:141044800-141046200	Enhancers	HUVEC	blood vessel
13	chr3:141045000-141046200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr3:141045000-141046200	Enhancers	Fetal Kidney	kidney
15	chr3:141045200-141046400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:141045200-141046400	Enhancers	Pancreas	Pancrea
17	chr3:141045200-141047600	Weak transcription	NHDF-Ad	bronchial
18	chr3:141045400-141046200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr3:141045400-141046400	Enhancers	HepG2	liver
20	chr3:141045600-141046200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:141045600-141046200	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr3:141045600-141046400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
23	chr3:141045600-141046400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr3:141045600-141046600	Enhancers	A549	lung
25	chr3:141045800-141046000	Active TSS	Fetal Intestine Large	intestine
26	chr3:141045800-141047800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr3:141045800-141049000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:141045800-141049200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:141045800-141050000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:141045800-141050200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:141045800-141051200	Weak transcription	Lung	lung

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