Variant report

Variant	rs7674055
Chromosome Location	chr4:119272958-119272959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119199765..119204001-chr4:119271592..119273818,4	K562	blood:
2	chr4:119198677..119205956-chr4:119272273..119279963,18	MCF-7	breast:
3	chr4:119199692..119204423-chr4:119272219..119275323,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269893	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11098434	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1113677	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13119545	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13124454	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13145902	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1514658	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2175971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6854766	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661210	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs788653	0.96[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv482277	chr4:119261543-119408886	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv461631	chr4:119261939-119308603	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv595331	chr4:119261939-119308603	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3440556	chr4:119272654-119275202	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7674055	BBS7	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119267400-119273000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:119267400-119273200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:119268000-119273000	Weak transcription	Gastric	stomach
4	chr4:119268200-119273000	Weak transcription	Pancreas	Pancrea
5	chr4:119271600-119273000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:119271600-119273200	Bivalent/Poised TSS	Fetal Brain Male	brain
7	chr4:119271600-119274200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:119271600-119274400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:119271600-119275000	Active TSS	NHLF	lung
10	chr4:119271800-119274200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:119271800-119274200	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr4:119271800-119274600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr4:119271800-119274600	Active TSS	Osteobl	bone
14	chr4:119272200-119273400	Bivalent Enhancer	HUVEC	blood vessel
15	chr4:119272200-119274600	Active TSS	NHDF-Ad	bronchial
16	chr4:119272400-119274400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr4:119272400-119274400	Bivalent/Poised TSS	Fetal Brain Female	brain
18	chr4:119272600-119273200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:119272600-119274400	Active TSS	Stomach Mucosa	stomach
20	chr4:119272800-119273000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
21	chr4:119272800-119273000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:119272800-119273000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:119272800-119273000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
24	chr4:119272800-119273000	Bivalent/Poised TSS	Fetal Heart	heart
25	chr4:119272800-119273000	Active TSS	Fetal Stomach	stomach
26	chr4:119272800-119273000	Active TSS	Rectal Smooth Muscle	rectum
27	chr4:119272800-119273200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr4:119272800-119273200	Active TSS	Colonic Mucosa	Colon
29	chr4:119272800-119273200	Flanking Active TSS	Fetal Lung	lung
30	chr4:119272800-119273200	Flanking Active TSS	NHEK	skin
31	chr4:119272800-119273400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:119272800-119273400	Enhancers	Liver	Liver
33	chr4:119272800-119273600	Flanking Active TSS	HMEC	breast
34	chr4:119272800-119274400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr4:119272800-119274800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:119272800-119275000	Active TSS	Pancreatic Islets	Pancreatic Islet

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