Variant report

Variant	rs1765640
Chromosome Location	chr1:94799395-94799396
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94524835..94527724-chr1:94798552..94800345,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198691	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];0.90[CHB][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11165103	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11165114	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes]
rs12024941	0.87[EUR][1000 genomes]
rs12027548	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12031606	0.87[EUR][1000 genomes]
rs12036085	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12038745	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12039546	0.88[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];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12046536	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes]
rs12093742	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12562103	0.91[EUR][1000 genomes]
rs12563826	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1360365	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1576592	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1611832	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1622451	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623248	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629275	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1687947	1.00[CEU][hapmap];0.80[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1687950	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16928	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]
rs17111408	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17111419	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17111426	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17111436	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1765636	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1929131	0.87[CEU][hapmap]
rs1999270	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes]
rs1999271	1.00[CEU][hapmap];0.80[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs2130899	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2391472	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35275815	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4543802	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847201	1.00[CEU][hapmap];0.80[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs4847296	0.87[EUR][1000 genomes]
rs55961421	0.84[EUR][1000 genomes]
rs56037795	0.87[EUR][1000 genomes]
rs6541343	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes]
rs6541345	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6662877	0.90[EUR][1000 genomes]
rs6673491	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs6675959	1.00[CEU][hapmap];0.80[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs6681827	1.00[CEU][hapmap];0.80[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs66918029	0.84[EUR][1000 genomes]
rs66961454	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67180557	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67554381	0.85[EUR][1000 genomes]
rs67612304	0.91[EUR][1000 genomes]
rs67681803	0.87[EUR][1000 genomes]
rs67807923	0.93[EUR][1000 genomes]
rs68193246	0.91[EUR][1000 genomes]
rs7413345	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7415246	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7515965	0.86[EUR][1000 genomes]
rs7520754	0.87[EUR][1000 genomes]
rs7525320	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7533977	0.86[EUR][1000 genomes]
rs7554714	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.86[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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94788600-94800800	Weak transcription	Pancreas	Pancrea
2	chr1:94792400-94800200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:94793200-94800600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:94796000-94800000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:94796000-94800200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:94796000-94800400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:94796000-94800600	Weak transcription	Adipose Nuclei	Adipose
8	chr1:94796000-94800600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:94796000-94804600	Weak transcription	Fetal Thymus	thymus
10	chr1:94796000-94804800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:94796000-94807800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:94796200-94799800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:94796200-94800400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:94796400-94800200	Weak transcription	Left Ventricle	heart
15	chr1:94796600-94804800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:94798200-94799400	Enhancers	NH-A	brain
17	chr1:94798200-94801400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:94798200-94802000	Enhancers	Osteobl	bone
19	chr1:94798200-94802400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:94798400-94799600	Enhancers	HepG2	liver
21	chr1:94798400-94801000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:94798400-94801000	Enhancers	HSMMtube	muscle
23	chr1:94798400-94801200	Enhancers	A549	lung
24	chr1:94798400-94801200	Enhancers	HSMM	muscle
25	chr1:94798400-94801400	Enhancers	HMEC	breast
26	chr1:94798600-94799400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:94798600-94800200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:94798600-94801200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:94798600-94801200	Enhancers	NHLF	lung
30	chr1:94798800-94800000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:94798800-94801000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:94798800-94801000	Enhancers	Placenta	Placenta
33	chr1:94798800-94801000	Enhancers	Fetal Stomach	stomach
34	chr1:94799000-94800000	Weak transcription	NHDF-Ad	bronchial
35	chr1:94799000-94800200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:94799000-94800200	Weak transcription	Fetal Kidney	kidney
37	chr1:94799000-94800400	Enhancers	GM12878-XiMat	blood
38	chr1:94799000-94800800	Weak transcription	HUVEC	blood vessel
39	chr1:94799000-94805200	Weak transcription	Lung	lung
40	chr1:94799200-94799800	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:94799200-94800200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr1:94799200-94800200	Weak transcription	Fetal Heart	heart
43	chr1:94799200-94800200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:94799200-94800800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:94799200-94801200	Weak transcription	NHEK	skin
46	chr1:94799200-94812000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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