Variant report

Variant	rs17014942
Chromosome Location	chr1:209802894-209802895
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209802187..209804271-chr1:209805371..209807292,2	K562	blood:
2	chr1:209800870..209803812-chr1:209809987..209812657,3	K562	blood:
3	chr1:209802885..209804610-chr1:209822398..209824782,2	MCF-7	breast:
4	chr1:209802370..209804993-chr1:209955747..209957464,2	K562	blood:

Variant related genes	Relation type
ENSG00000196878	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10489340	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12089972	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12090288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12403733	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12410975	1.00[CEU][hapmap];0.90[GIH][hapmap]
rs17014889	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17014906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17014955	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17015006	1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs2072937	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2072939	1.00[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2072942	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2076219	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2076222	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2076232	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2076347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2076348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2076349	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[EUR][1000 genomes]
rs2076350	0.82[EUR][1000 genomes]
rs2076352	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229465	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2229466	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2235542	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2236889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2236890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2282734	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2282736	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2282737	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36051870	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58679997	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59815577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60927005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs714971	1.00[AMR][1000 genomes];1.00[EUR][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209787200-209808400	Strong transcription	Placenta Amnion	Placenta Amnion
2	chr1:209787400-209816200	Strong transcription	NHEK	skin
3	chr1:209792400-209806400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:209794800-209803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:209795200-209804400	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:209797800-209803200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:209798000-209805200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:209799400-209806600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:209799600-209803600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:209799800-209814600	Strong transcription	Fetal Intestine Small	intestine
11	chr1:209800000-209813200	Strong transcription	Fetal Intestine Large	intestine
12	chr1:209800600-209805800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:209800800-209803200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:209800800-209803200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:209800800-209804200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:209800800-209804800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:209801200-209804200	Weak transcription	Fetal Brain Female	brain
18	chr1:209801200-209806400	Weak transcription	HSMM	muscle
19	chr1:209801200-209806600	Weak transcription	Osteobl	bone
20	chr1:209801200-209811600	Weak transcription	Stomach Mucosa	stomach
21	chr1:209801200-209814800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:209801400-209803000	Weak transcription	Brain Germinal Matrix	brain
23	chr1:209801400-209803200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:209801400-209803600	Weak transcription	Adipose Nuclei	Adipose
25	chr1:209801400-209804000	Weak transcription	Fetal Brain Male	brain
26	chr1:209801400-209805200	Strong transcription	HMEC	breast
27	chr1:209801400-209806600	Weak transcription	NH-A	brain
28	chr1:209801400-209812800	Weak transcription	Pancreas	Pancrea
29	chr1:209801400-209814800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:209801600-209803000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:209801600-209803000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:209801600-209803000	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:209801600-209803000	Weak transcription	Brain Substantia Nigra	brain
34	chr1:209801600-209803000	Weak transcription	Left Ventricle	heart
35	chr1:209801600-209803000	Weak transcription	Right Ventricle	heart
36	chr1:209801600-209803200	Weak transcription	Brain Angular Gyrus	brain
37	chr1:209801600-209803200	Weak transcription	Brain Anterior Caudate	brain
38	chr1:209801600-209803200	Weak transcription	Gastric	stomach
39	chr1:209801600-209803200	Weak transcription	Right Atrium	heart
40	chr1:209801600-209803400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:209801600-209803600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:209801600-209803800	Weak transcription	Psoas Muscle	Psoas
43	chr1:209801600-209804200	Weak transcription	Esophagus	oesophagus
44	chr1:209801600-209804400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:209801600-209805600	Strong transcription	Fetal Stomach	stomach
46	chr1:209801600-209807600	Weak transcription	Colonic Mucosa	Colon
47	chr1:209801600-209808200	Weak transcription	Fetal Lung	lung
48	chr1:209801600-209814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:209801600-209818000	Weak transcription	Spleen	Spleen
50	chr1:209801600-209819800	Weak transcription	Lung	lung

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