Variant report

Variant	rs56149802
Chromosome Location	chr2:98915851-98915852
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10170356	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17429187	0.88[EUR][1000 genomes]
rs17429299	0.91[EUR][1000 genomes]
rs4281956	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55749068	0.91[EUR][1000 genomes]
rs6543413	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6714220	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72819905	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1004082	chr2:98792256-98967681	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv535833	chr2:98792256-98967681	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1008645	chr2:98915767-99010743	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98911600-98916400	Weak transcription	Brain Anterior Caudate	brain
2	chr2:98912000-98916400	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:98914400-98916000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:98914400-98916000	Enhancers	HUVEC	blood vessel
5	chr2:98914400-98916400	Enhancers	Stomach Mucosa	stomach
6	chr2:98914600-98916000	Weak transcription	Esophagus	oesophagus
7	chr2:98915200-98916200	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr2:98915200-98917000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:98915400-98916000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:98915400-98916200	Enhancers	Placenta	Placenta
11	chr2:98915400-98917200	Enhancers	Gastric	stomach
12	chr2:98915600-98916000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:98915600-98916000	Flanking Active TSS	Colonic Mucosa	Colon
14	chr2:98915600-98916000	Enhancers	Fetal Intestine Small	intestine
15	chr2:98915600-98916000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr2:98915600-98916200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:98915600-98916200	Bivalent Enhancer	Fetal Stomach	stomach
18	chr2:98915600-98916200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr2:98915600-98916400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:98915800-98916000	Enhancers	Brain Angular Gyrus	brain
21	chr2:98915800-98916000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:98915800-98916200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:98915800-98916200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:98915800-98916800	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:98915800-98916800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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