Variant report

Variant	rs73227783
Chromosome Location	chr2:20371436-20371437
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RXRA	chr2:20371186-20371522	HepG2	liver:	n/a	n/a
2	NFIC	chr2:20371201-20371650	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20359744..20361850-chr2:20371412..20373041,2	MCF-7	breast:
2	chr2:20369269..20371931-chr2:20376136..20379582,4	MCF-7	breast:

Variant related genes	Relation type
RN7SL140P	TF binding region
RNU6-961P	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11898449	1.00[AFR][1000 genomes]
rs73225798	1.00[AMR][1000 genomes]
rs73227769	0.96[AFR][1000 genomes]
rs73229414	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7587935	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1004083	chr2:20336237-20388138	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1000323	chr2:20336237-20419923	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1004947	chr2:20342264-20388138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv997958	chr2:20349343-20386339	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1005524	chr2:20349343-20388138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv999131	chr2:20350751-20377607	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv998067	chr2:20350751-20386339	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1001531	chr2:20350751-20388138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1007926	chr2:20350751-20393557	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20363800-20374000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:20364400-20372000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:20364800-20372200	Enhancers	NHEK	skin
4	chr2:20366400-20372000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:20366600-20371600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:20366800-20372600	Enhancers	Placenta	Placenta
7	chr2:20367200-20376600	Weak transcription	Stomach Mucosa	stomach
8	chr2:20367400-20372200	Weak transcription	GM12878-XiMat	blood
9	chr2:20367800-20383600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:20369000-20374400	Enhancers	Esophagus	oesophagus
11	chr2:20369600-20371800	Enhancers	Fetal Intestine Large	intestine
12	chr2:20369600-20377800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:20369800-20371800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:20369800-20371800	Enhancers	Fetal Intestine Small	intestine
15	chr2:20369800-20374200	Enhancers	Liver	Liver
16	chr2:20370000-20373200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:20370200-20372000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:20370200-20372000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:20370200-20379800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:20370400-20372200	Enhancers	Fetal Kidney	kidney
21	chr2:20370600-20372000	Weak transcription	Brain Germinal Matrix	brain
22	chr2:20370800-20371600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:20370800-20372000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:20370800-20372400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:20370800-20372400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:20371000-20371600	Enhancers	Duodenum Mucosa	Duodenum
27	chr2:20371000-20372600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:20371200-20372400	Enhancers	Fetal Stomach	stomach
29	chr2:20371200-20373000	Enhancers	Fetal Lung	lung
30	chr2:20371200-20373600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:20371200-20373800	Enhancers	HMEC	breast
32	chr2:20371400-20371600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:20371400-20371600	Enhancers	Lung	lung
34	chr2:20371400-20371600	Flanking Active TSS	HepG2	liver
35	chr2:20371400-20371800	Enhancers	Right Atrium	heart
36	chr2:20371400-20372200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:20371400-20372400	Enhancers	H1 Cell Line	embryonic stem cell

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