Variant report

Variant	rs2267682
Chromosome Location	chr7:139545370-139545371
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139544050..139545733-chr7:139546772..139548568,3	K562	blood:
2	chr7:139544662..139547554-chr7:139547944..139549525,2	K562	blood:
3	chr7:139544883..139546567-chr7:139551008..139554000,2	K562	blood:
4	chr7:139478116..139480170-chr7:139545133..139547518,2	K562	blood:
5	chr7:139539840..139543405-chr7:139545009..139547964,3	K562	blood:
6	chr7:139544322..139546688-chr7:139552868..139554622,2	K562	blood:

Variant related genes	Relation type
ENSG00000059377	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2107900	0.83[TSI][hapmap]
rs4725857	0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs6946849	0.86[EUR][1000 genomes]
rs6952056	0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs6974960	0.85[EUR][1000 genomes]
rs7796073	0.90[EUR][1000 genomes]
rs7810415	0.93[CEU][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2267682	KEL	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139531400-139553800	Weak transcription	Primary T cells from cord blood	blood
2	chr7:139531400-139572600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:139541000-139555200	Weak transcription	Thymus	Thymus
4	chr7:139542400-139546000	Weak transcription	HepG2	liver
5	chr7:139542400-139546200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr7:139542400-139546400	Enhancers	Duodenum Mucosa	Duodenum
7	chr7:139542400-139551600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:139542600-139548000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:139542800-139547000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:139542800-139551600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:139543000-139548200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:139543000-139551800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:139543200-139554000	Weak transcription	Fetal Thymus	thymus
14	chr7:139543800-139549800	Weak transcription	Fetal Lung	lung
15	chr7:139544000-139545400	Enhancers	Hela-S3	cervix
16	chr7:139544000-139546600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:139544400-139546600	Enhancers	Stomach Mucosa	stomach
18	chr7:139544400-139546800	Enhancers	Pancreas	Pancrea
19	chr7:139544600-139545400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:139544600-139545400	Enhancers	Gastric	stomach
21	chr7:139544800-139545400	Enhancers	Esophagus	oesophagus
22	chr7:139544800-139545800	Enhancers	NHEK	skin
23	chr7:139545000-139547200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:139545000-139551600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr7:139545200-139546000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:139545200-139547400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:139545200-139553000	Weak transcription	Lung	lung
28	chr7:139545200-139559800	Weak transcription	Spleen	Spleen

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