Variant report

Variant	rs17023879
Chromosome Location	chr2:100901111-100901112
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100885913..100887573-chr2:100900551..100902745,2	MCF-7	breast:
2	chr2:100893699..100897169-chr2:100899587..100903259,4	MCF-7	breast:
3	chr2:100900624..100902908-chr2:100926572..100928949,2	K562	blood:
4	chr2:100898902..100903882-chr2:100937164..100940384,5	K562	blood:
5	chr2:100899535..100901575-chr2:100909309..100912532,4	K562	blood:
6	chr2:100899904..100902049-chr2:100905523..100907621,2	MCF-7	breast:
7	chr2:100900693..100917248-chr2:100932005..100942326,51	MCF-7	breast:
8	chr2:100898914..100902025-chr2:100905240..100908498,4	K562	blood:
9	chr2:100889953..100892451-chr2:100898543..100901501,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10166685	1.00[AMR][1000 genomes]
rs10195002	1.00[AMR][1000 genomes]
rs10197691	1.00[AMR][1000 genomes]
rs11885543	1.00[AMR][1000 genomes]
rs12328904	1.00[AMR][1000 genomes]
rs13392606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13397862	1.00[AMR][1000 genomes]
rs13399298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13399343	1.00[AMR][1000 genomes]
rs13400243	1.00[AMR][1000 genomes]
rs13400704	1.00[AMR][1000 genomes]
rs13416518	1.00[AMR][1000 genomes]
rs13427006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13429281	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[YRI][hapmap];1.00[AMR][1000 genomes]
rs17024333	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]

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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1803417	chr2:100898843-100901948	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100885600-100902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:100887800-100901800	Weak transcription	Fetal Intestine Small	intestine
3	chr2:100891800-100907600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:100892000-100902000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:100892000-100904000	Weak transcription	Gastric	stomach
6	chr2:100892200-100909800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:100896600-100907000	Weak transcription	Spleen	Spleen
8	chr2:100896600-100907600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:100897600-100903600	Enhancers	Dnd41	blood
10	chr2:100898400-100902000	Weak transcription	Fetal Stomach	stomach
11	chr2:100898400-100906800	Weak transcription	Placenta	Placenta
12	chr2:100898400-100908200	Weak transcription	Fetal Lung	lung
13	chr2:100898400-100915600	Weak transcription	Right Atrium	heart
14	chr2:100898600-100901600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:100898600-100902200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:100898600-100902600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:100898800-100901800	Weak transcription	Fetal Kidney	kidney
18	chr2:100898800-100902000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:100898800-100902000	Weak transcription	Lung	lung
20	chr2:100898800-100903000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:100898800-100915000	Weak transcription	Adipose Nuclei	Adipose
22	chr2:100899000-100901600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:100899000-100901800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:100899000-100901800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:100899000-100902000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:100899000-100902000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:100899000-100902200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:100899000-100907400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:100899200-100902000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:100899400-100902400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:100899400-100903200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:100899600-100902600	Weak transcription	Small Intestine	intestine
33	chr2:100900000-100903600	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:100900000-100904200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:100900000-100905600	Strong transcription	Aorta	Aorta
36	chr2:100900200-100902200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:100900200-100902600	Strong transcription	Colon Smooth Muscle	Colon
38	chr2:100900200-100903200	Enhancers	NH-A	brain
39	chr2:100900200-100903600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:100900200-100903600	Strong transcription	Left Ventricle	heart
41	chr2:100900200-100905200	Strong transcription	Brain Germinal Matrix	brain
42	chr2:100900200-100919000	Strong transcription	Fetal Brain Female	brain
43	chr2:100900400-100901600	Weak transcription	A549	lung
44	chr2:100900400-100902000	Enhancers	Liver	Liver
45	chr2:100900600-100901200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr2:100900600-100901200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:100900600-100901200	Genic enhancers	Brain Angular Gyrus	brain
48	chr2:100900600-100904200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:100900800-100901400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr2:100900800-100902200	Weak transcription	Stomach Smooth Muscle	stomach

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