Variant report

Variant	rs6733465
Chromosome Location	chr2:9944291-9944292
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9942046..9945033-chr2:9945080..9947215,2	K562	blood:
2	chr2:9940885..9945263-chr2:9946727..9949411,4	K562	blood:
3	chr2:9941486..9944395-chr2:9967791..9970762,3	MCF-7	breast:
4	chr2:9940003..9944697-chr2:9981835..9986230,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115750	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16867170	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867172	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867173	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867174	0.94[ASN][1000 genomes]
rs16867175	0.94[ASN][1000 genomes]
rs17363526	0.88[ASN][1000 genomes]
rs908293	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs908294	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv470443	chr2:9857018-9975557	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv873619	chr2:9870631-9956981	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv873620	chr2:9906145-9951970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv524327	chr2:9913515-9954768	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv873621	chr2:9924387-9954598	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv517701	chr2:9933956-9954768	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv580958	chr2:9942159-9955047	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9933200-9953800	Weak transcription	Fetal Heart	heart
2	chr2:9940400-9953600	Weak transcription	Right Atrium	heart
3	chr2:9940600-9949400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:9940600-9949800	Weak transcription	Lung	lung
5	chr2:9941200-9948400	Weak transcription	Stomach Mucosa	stomach
6	chr2:9941800-9951800	Weak transcription	Psoas Muscle	Psoas
7	chr2:9942200-9945000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:9942800-9948600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:9943200-9945400	Weak transcription	Fetal Stomach	stomach
10	chr2:9943200-9949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:9943400-9949400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:9943600-9945400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:9943600-9949000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:9943800-9945200	Weak transcription	HSMMtube	muscle
15	chr2:9943800-9945400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:9943800-9945600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:9943800-9946000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:9943800-9946000	Weak transcription	Esophagus	oesophagus
19	chr2:9943800-9946000	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:9944000-9944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:9944000-9945000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:9944000-9945000	Weak transcription	HSMM	muscle
23	chr2:9944000-9945200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:9944000-9945200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:9944000-9945200	Weak transcription	Osteobl	bone
26	chr2:9944000-9945400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:9944000-9945400	Weak transcription	Adipose Nuclei	Adipose
28	chr2:9944000-9945400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:9944000-9945600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:9944000-9945600	Weak transcription	NHLF	lung
31	chr2:9944000-9945800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:9944000-9948400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:9944000-9948400	Weak transcription	NHEK	skin
34	chr2:9944000-9948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:9944000-9948600	Weak transcription	HMEC	breast
36	chr2:9944000-9949000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:9944000-9949400	Weak transcription	Colonic Mucosa	Colon
38	chr2:9944000-9949400	Weak transcription	Fetal Intestine Large	intestine
39	chr2:9944200-9945200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:9944200-9945600	Weak transcription	Placenta	Placenta
41	chr2:9944200-9945800	Weak transcription	Fetal Intestine Small	intestine

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