Variant report

Variant	rs16928
Chromosome Location	chr1:94786514-94786515
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	chr1:94784902..94787209-chr1:94788725..94790775,2	K562	blood:

Variant related genes	Relation type
ENSG00000236098	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1054626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11165103	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11165114	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs12024941	0.91[EUR][1000 genomes]
rs12027548	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12031606	0.91[EUR][1000 genomes]
rs12036085	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12038745	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12039546	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12042509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046536	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.88[EUR][1000 genomes]
rs12093742	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12562103	0.95[EUR][1000 genomes]
rs12563826	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1360365	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1576592	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1611832	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1622451	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623248	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629275	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1687947	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1687950	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17111408	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17111419	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17111426	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17111436	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.88[JPT][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1765636	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1765640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1929131	0.86[CEU][hapmap];0.89[CHB][hapmap];0.81[EUR][1000 genomes]
rs1999270	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes]
rs1999271	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes]
rs2130899	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2391472	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35275815	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4543802	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847201	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes]
rs4847296	0.91[EUR][1000 genomes]
rs55961421	0.88[EUR][1000 genomes]
rs56037795	0.91[EUR][1000 genomes]
rs6541343	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes]
rs6541345	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6662877	0.94[EUR][1000 genomes]
rs6673491	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes]
rs6675959	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes]
rs6681827	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes]
rs66918029	0.88[EUR][1000 genomes]
rs66961454	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67180557	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67554381	0.89[EUR][1000 genomes]
rs67612304	0.95[EUR][1000 genomes]
rs67681803	0.91[EUR][1000 genomes]
rs67807923	0.97[EUR][1000 genomes]
rs68193246	0.95[EUR][1000 genomes]
rs7413345	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7415246	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7515965	0.90[EUR][1000 genomes]
rs7520754	0.91[EUR][1000 genomes]
rs7525320	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7533977	0.90[EUR][1000 genomes]
rs7554714	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94774600-94787800	Weak transcription	Aorta	Aorta
2	chr1:94776600-94790400	Weak transcription	Psoas Muscle	Psoas
3	chr1:94778600-94790400	Weak transcription	Spleen	Spleen
4	chr1:94782800-94789000	Weak transcription	Fetal Kidney	kidney
5	chr1:94783000-94789400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:94783200-94787200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:94783200-94787200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:94783200-94787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:94783200-94787400	Weak transcription	HSMM	muscle
10	chr1:94783200-94787800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:94783200-94788400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:94783200-94792800	Weak transcription	Fetal Intestine Small	intestine
13	chr1:94783400-94787400	Enhancers	A549	lung
14	chr1:94783600-94787000	Weak transcription	NHEK	skin
15	chr1:94783600-94787800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:94784200-94787800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:94784400-94787800	Weak transcription	Lung	lung
18	chr1:94784400-94791000	Weak transcription	Gastric	stomach
19	chr1:94784800-94791400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:94785000-94787200	Weak transcription	Hela-S3	cervix
21	chr1:94785200-94787200	Weak transcription	HMEC	breast
22	chr1:94785400-94787200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:94785400-94787200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:94785400-94787800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:94785400-94787800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:94785400-94787800	Weak transcription	Osteobl	bone
27	chr1:94785400-94792000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:94785600-94787200	Weak transcription	Stomach Mucosa	stomach
29	chr1:94785600-94787400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:94785600-94787600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:94785600-94787600	Weak transcription	NH-A	brain
32	chr1:94785600-94787800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:94785600-94787800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:94785600-94787800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:94785600-94787800	Weak transcription	Placenta	Placenta
36	chr1:94785600-94787800	Weak transcription	Pancreas	Pancrea
37	chr1:94785600-94788200	Weak transcription	Adipose Nuclei	Adipose
38	chr1:94785600-94788400	Weak transcription	Right Atrium	heart
39	chr1:94785600-94792200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:94785800-94786600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:94785800-94787200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:94785800-94787200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:94785800-94787600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:94785800-94787800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr1:94785800-94787800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:94785800-94789000	Enhancers	HUVEC	blood vessel
47	chr1:94785800-94790800	Weak transcription	Fetal Heart	heart
48	chr1:94785800-94790800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:94785800-94791200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:94785800-94791600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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