Variant report

Variant	rs17700388
Chromosome Location	chr10:50218092-50218093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50217414..50220289-chr10:50222557..50225109,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10508911	0.89[CEU][hapmap]
rs10857434	0.89[CEU][hapmap]
rs11100985	0.89[CEU][hapmap]
rs11594923	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11813727	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11813892	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11814277	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11816318	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11817325	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17011692	0.95[CEU][hapmap];1.00[CHD][hapmap]
rs17011715	0.95[CEU][hapmap]
rs17011726	0.95[CEU][hapmap]
rs17011755	0.89[CEU][hapmap]
rs17011799	0.89[CEU][hapmap];1.00[CHD][hapmap]
rs17773666	0.89[CEU][hapmap]
rs17774058	1.00[CHD][hapmap]
rs2377692	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4272720	0.95[CEU][hapmap]
rs4453139	0.94[CEU][hapmap]
rs61848124	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61848153	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61848377	0.82[AMR][1000 genomes]
rs61850678	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7905715	0.84[CEU][hapmap];1.00[CHD][hapmap]

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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv6620	chr10:50197344-50224635	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50210800-50219800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:50210800-50223600	Weak transcription	Spleen	Spleen
3	chr10:50213400-50223000	Enhancers	Ovary	ovary
4	chr10:50215000-50219400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr10:50215200-50218400	Enhancers	Fetal Brain Male	brain
6	chr10:50215200-50222400	Enhancers	Left Ventricle	heart
7	chr10:50215400-50219400	Enhancers	Fetal Stomach	stomach
8	chr10:50216000-50218800	Enhancers	Right Atrium	heart
9	chr10:50216000-50219800	Enhancers	Fetal Muscle Trunk	muscle
10	chr10:50216000-50219800	Enhancers	Fetal Muscle Leg	muscle
11	chr10:50216200-50220000	Enhancers	Fetal Intestine Large	intestine
12	chr10:50216200-50221800	Enhancers	Fetal Intestine Small	intestine
13	chr10:50216600-50218200	Enhancers	Fetal Heart	heart
14	chr10:50216600-50218600	Weak transcription	Colon Smooth Muscle	Colon
15	chr10:50216600-50219000	Enhancers	K562	blood
16	chr10:50216600-50222000	Enhancers	Right Ventricle	heart
17	chr10:50216600-50223000	Enhancers	Placenta	Placenta
18	chr10:50216800-50218400	Weak transcription	Esophagus	oesophagus
19	chr10:50216800-50218400	Enhancers	Fetal Brain Female	brain
20	chr10:50217000-50218600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr10:50217200-50219200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr10:50217200-50220600	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:50217200-50226600	Weak transcription	Aorta	Aorta
24	chr10:50217400-50218200	Enhancers	Adipose Nuclei	Adipose
25	chr10:50217400-50218400	Weak transcription	Psoas Muscle	Psoas
26	chr10:50217400-50231200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr10:50217600-50218600	Enhancers	Stomach Smooth Muscle	stomach
28	chr10:50217600-50218800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr10:50217600-50227000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:50218000-50221000	Weak transcription	Fetal Lung	lung

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