Variant report

Variant	rs7600969
Chromosome Location	chr2:110434663-110434664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12719068	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1973859	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4953762	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4953763	0.84[ASN][1000 genomes]
rs4953764	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6594036	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv2762780	chr2:110367969-110462496	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv491837	chr2:110381297-110964737	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv999552	chr2:110396395-110978224	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv428061	chr2:110423940-110714002	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	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	chr2:110421600-110438600	Weak transcription	Right Atrium	heart
2	chr2:110429000-110441200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:110431800-110439600	Enhancers	Stomach Mucosa	stomach
4	chr2:110432000-110438800	Enhancers	Fetal Intestine Small	intestine
5	chr2:110432000-110439400	Enhancers	Fetal Intestine Large	intestine
6	chr2:110432400-110437600	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:110432600-110435000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:110433200-110435000	Enhancers	Colonic Mucosa	Colon
9	chr2:110433200-110438200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:110433400-110435200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:110433400-110435200	Enhancers	Lung	lung
12	chr2:110433400-110436000	Flanking Active TSS	HepG2	liver
13	chr2:110433400-110436800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:110433400-110437400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:110433400-110437600	Enhancers	Fetal Lung	lung
16	chr2:110433400-110439600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:110433600-110434800	Weak transcription	Pancreas	Pancrea
18	chr2:110433600-110435200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:110433600-110435400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:110433800-110435000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:110434000-110435000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:110434000-110437400	Enhancers	Colon Smooth Muscle	Colon
23	chr2:110434200-110436200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:110434200-110436400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:110434200-110436600	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:110434200-110437600	Enhancers	Fetal Stomach	stomach
27	chr2:110434200-110439400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:110434200-110447600	Weak transcription	Small Intestine	intestine
29	chr2:110434400-110434800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:110434400-110434800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:110434400-110434800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:110434400-110435000	Enhancers	NHEK	skin
33	chr2:110434400-110435400	Weak transcription	Spleen	Spleen
34	chr2:110434400-110435800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:110434400-110435800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:110434400-110437600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr2:110434600-110435000	Enhancers	Esophagus	oesophagus

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