Variant report

Variant	rs4996878
Chromosome Location	chr6:33732913-33732914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33724946..33727778-chr6:33732399..33734777,2	MCF-7	breast:
2	chr6:33731707..33733377-chr6:33739681..33741307,2	K562	blood:
3	chr6:33683155..33686367-chr6:33732476..33736646,4	MCF-7	breast:
4	chr6:33727358..33730164-chr6:33732846..33736236,4	K562	blood:
5	chr6:33706772..33708979-chr6:33732721..33735158,2	K562	blood:
6	chr6:33730312..33733510-chr6:33847562..33850265,3	K562	blood:
7	chr6:33732354..33734796-chr6:33734914..33737120,3	K562	blood:
8	chr6:33587894..33590790-chr6:33732523..33735377,2	MCF-7	breast:
9	chr6:33677635..33679706-chr6:33732667..33735011,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137288	Chromatin interaction
ENSG00000096433	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10947436	0.88[EUR][1000 genomes]
rs11751943	0.91[EUR][1000 genomes]
rs1536500	0.92[EUR][1000 genomes]
rs1536501	0.90[EUR][1000 genomes]
rs1998949	0.91[EUR][1000 genomes]
rs2182659	0.88[EUR][1000 genomes]
rs2395401	0.88[EUR][1000 genomes]
rs2395447	0.88[EUR][1000 genomes]
rs2395448	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4711350	0.88[EUR][1000 genomes]
rs4713676	0.85[EUR][1000 genomes]
rs4996879	0.90[EUR][1000 genomes]
rs7449707	0.86[EUR][1000 genomes]
rs751727	0.88[EUR][1000 genomes]
rs9380379	0.80[EUR][1000 genomes]
rs943463	0.89[EUR][1000 genomes]
rs943464	0.93[EUR][1000 genomes]
rs943465	0.88[EUR][1000 genomes]
rs943472	0.87[EUR][1000 genomes]
rs9461905	0.92[EUR][1000 genomes]
rs9461907	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv462897	chr6:33717770-33778964	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv602839	chr6:33717770-33778964	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv462898	chr6:33723383-33768897	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv602840	chr6:33723383-33768897	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33715200-33737800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:33723400-33736600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:33726400-33738200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:33729000-33736200	Weak transcription	HSMM	muscle
5	chr6:33729800-33734800	Weak transcription	HSMMtube	muscle
6	chr6:33730000-33738600	Weak transcription	A549	lung
7	chr6:33730200-33733200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:33730200-33736400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:33730200-33737800	Weak transcription	Right Atrium	heart
10	chr6:33730200-33738200	Weak transcription	Colonic Mucosa	Colon
11	chr6:33730200-33738400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:33730600-33738600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:33730800-33736000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:33730800-33736600	Weak transcription	Brain Substantia Nigra	brain
15	chr6:33730800-33737600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:33730800-33738600	Weak transcription	Liver	Liver
17	chr6:33731400-33738400	Weak transcription	Spleen	Spleen
18	chr6:33731600-33738200	Weak transcription	Right Ventricle	heart
19	chr6:33731800-33733200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:33731800-33735400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:33732000-33736200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:33732600-33742400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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