Variant report

Variant	rs17034595
Chromosome Location	chr1:10292174-10292175
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12088302	1.00[GIH][hapmap]
rs17034624	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17034644	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17034676	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17034697	1.00[ASW][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17034714	1.00[AMR][1000 genomes]
rs17034819	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv999251	chr1:10276263-10318163	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10272800-10296600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:10276800-10311800	Weak transcription	Hela-S3	cervix
4	chr1:10277000-10322000	Weak transcription	Spleen	Spleen
5	chr1:10278400-10295200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:10278400-10302000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:10278600-10294800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:10278800-10292400	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:10278800-10296400	Weak transcription	Fetal Lung	lung
10	chr1:10279800-10297800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:10281000-10294800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:10284800-10311000	Weak transcription	Small Intestine	intestine
13	chr1:10285000-10294000	Weak transcription	Fetal Stomach	stomach
14	chr1:10285200-10316000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:10285400-10292200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:10285400-10294000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:10285400-10302400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:10285400-10310800	Weak transcription	Aorta	Aorta
19	chr1:10285400-10312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:10285600-10293200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:10285600-10294600	Weak transcription	Lung	lung
22	chr1:10285600-10295200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:10285800-10293000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:10285800-10297000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:10286000-10292200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:10286000-10292200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:10286000-10293600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:10286000-10298000	Weak transcription	Right Atrium	heart
29	chr1:10286000-10301800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr1:10286000-10303000	Weak transcription	Brain Germinal Matrix	brain
31	chr1:10286200-10292400	Weak transcription	NH-A	brain
32	chr1:10286400-10294600	Weak transcription	Right Ventricle	heart
33	chr1:10286400-10297000	Weak transcription	HSMMtube	muscle
34	chr1:10286600-10294200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:10286800-10301600	Weak transcription	Fetal Kidney	kidney
36	chr1:10286800-10305800	Weak transcription	Ovary	ovary
37	chr1:10287400-10292600	Enhancers	HepG2	liver
38	chr1:10287400-10293200	Weak transcription	Left Ventricle	heart
39	chr1:10287400-10312400	Weak transcription	Pancreas	Pancrea
40	chr1:10287600-10292200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:10288600-10296400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:10288800-10292200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:10288800-10292400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:10288800-10293200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:10288800-10293800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:10289000-10292400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:10289000-10292400	Weak transcription	HSMM	muscle
48	chr1:10289000-10295400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:10289000-10297200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:10289000-10300600	Weak transcription	Fetal Heart	heart

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