Variant report

Variant	rs10197691
Chromosome Location	chr2:100799373-100799374
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100793774..100796720-chr2:100799072..100801535,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10166685	1.00[AMR][1000 genomes]
rs10195002	1.00[AMR][1000 genomes]
rs11885543	1.00[AMR][1000 genomes]
rs12328904	1.00[AMR][1000 genomes]
rs13392606	1.00[AMR][1000 genomes]
rs13397862	1.00[AMR][1000 genomes]
rs13399298	1.00[AMR][1000 genomes]
rs13399343	1.00[AMR][1000 genomes]
rs13400704	1.00[AMR][1000 genomes]
rs13427006	1.00[AMR][1000 genomes]
rs13429281	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17023784	1.00[AMR][1000 genomes]
rs17023787	1.00[AMR][1000 genomes]
rs17023795	1.00[AMR][1000 genomes]
rs17023813	1.00[AMR][1000 genomes]
rs17023822	1.00[AMR][1000 genomes]
rs17023879	1.00[AMR][1000 genomes]
rs28529291	1.00[AMR][1000 genomes]
rs57419659	1.00[AMR][1000 genomes]
rs6707671	1.00[AMR][1000 genomes]
rs6708691	1.00[AMR][1000 genomes]
rs7583182	1.00[AMR][1000 genomes]
rs7586717	1.00[AMR][1000 genomes]
rs7601715	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100791000-100809000	Weak transcription	Right Atrium	heart
2	chr2:100798200-100799400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
3	chr2:100798200-100799800	Enhancers	Fetal Muscle Trunk	muscle
4	chr2:100798200-100800000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr2:100798200-100800200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:100798200-100800200	Enhancers	Fetal Brain Male	brain
7	chr2:100798400-100800600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:100798400-100801800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:100798600-100799800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:100798600-100800000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:100798600-100800200	Enhancers	Adipose Nuclei	Adipose
12	chr2:100798600-100801400	Enhancers	Fetal Lung	lung
13	chr2:100798800-100799400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:100798800-100799800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr2:100798800-100799800	Enhancers	NHDF-Ad	bronchial
16	chr2:100798800-100800000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr2:100798800-100800000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:100798800-100800200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:100799000-100799400	Enhancers	Fetal Brain Female	brain
20	chr2:100799000-100799800	Enhancers	Right Ventricle	heart
21	chr2:100799000-100800000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:100799000-100800000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:100799000-100800800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr2:100799000-100802800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:100799200-100799600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:100799200-100799600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr2:100799200-100799800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
28	chr2:100799200-100799800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr2:100799200-100799800	Enhancers	Fetal Muscle Leg	muscle
30	chr2:100799200-100800000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:100799200-100800000	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr2:100799200-100800000	Enhancers	Duodenum Mucosa	Duodenum
33	chr2:100799200-100800600	Enhancers	Fetal Heart	heart

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