Variant report

Variant	rs4345796
Chromosome Location	chr1:154436750-154436751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154425985..154428453-chr1:154436104..154438755,2	MCF-7	breast:
2	chr1:154423682..154425869-chr1:154434875..154437152,2	MCF-7	breast:
3	chr1:154435097..154437712-chr1:154439386..154441987,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160712	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10159236	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10752642	0.86[EUR][1000 genomes]
rs10752643	0.80[EUR][1000 genomes]
rs10908844	0.80[EUR][1000 genomes]
rs10908846	0.80[EUR][1000 genomes]
rs11265618	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11804305	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12023358	0.81[EUR][1000 genomes]
rs12047973	0.80[EUR][1000 genomes]
rs12118074	0.86[EUR][1000 genomes]
rs12124333	0.86[EUR][1000 genomes]
rs14021	0.88[EUR][1000 genomes]
rs16836054	0.86[EUR][1000 genomes]
rs41302545	0.83[EUR][1000 genomes]
rs4131514	0.80[EUR][1000 genomes]
rs4269769	0.80[EUR][1000 genomes]
rs4288587	0.80[EUR][1000 genomes]
rs4308966	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4329505	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4474240	0.86[EUR][1000 genomes]
rs4518898	0.80[EUR][1000 genomes]
rs4575077	0.80[EUR][1000 genomes]
rs4585969	0.80[EUR][1000 genomes]
rs4845626	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4845634	0.86[EUR][1000 genomes]
rs4845635	0.86[EUR][1000 genomes]
rs4845636	0.86[EUR][1000 genomes]
rs4845640	0.80[EUR][1000 genomes]
rs4845641	0.80[EUR][1000 genomes]
rs4845644	0.81[EUR][1000 genomes]
rs4845648	0.81[EUR][1000 genomes]
rs55800510	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55826755	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56233546	0.86[EUR][1000 genomes]
rs57502626	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61811362	0.81[EUR][1000 genomes]
rs61812592	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61812593	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61812594	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61812596	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61812599	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61812626	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61812631	0.86[EUR][1000 genomes]
rs61812654	0.81[EUR][1000 genomes]
rs6427716	0.80[EUR][1000 genomes]
rs6427722	0.80[EUR][1000 genomes]
rs6656395	0.80[EUR][1000 genomes]
rs6662503	0.86[EUR][1000 genomes]
rs6670375	0.80[EUR][1000 genomes]
rs6687112	0.80[EUR][1000 genomes]
rs6691727	0.80[EUR][1000 genomes]
rs6696177	0.81[EUR][1000 genomes]
rs6697103	0.80[EUR][1000 genomes]
rs6697115	0.80[EUR][1000 genomes]
rs6701586	0.80[EUR][1000 genomes]
rs72698167	0.86[EUR][1000 genomes]
rs7513603	0.86[EUR][1000 genomes]
rs7526247	0.81[EUR][1000 genomes]
rs7539745	0.82[EUR][1000 genomes]
rs7550664	0.82[EUR][1000 genomes]
rs7553602	0.80[EUR][1000 genomes]
rs9427076	0.81[EUR][1000 genomes]
rs9427082	0.83[EUR][1000 genomes]
rs9427415	0.81[EUR][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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154418000-154440000	Weak transcription	Small Intestine	intestine
2	chr1:154422600-154437600	Weak transcription	Pancreas	Pancrea
3	chr1:154425000-154437200	Weak transcription	Fetal Stomach	stomach
4	chr1:154426400-154438000	Weak transcription	Psoas Muscle	Psoas
5	chr1:154426600-154440600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:154426800-154441200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:154426800-154442200	Weak transcription	HepG2	liver
8	chr1:154426800-154450000	Weak transcription	Fetal Intestine Small	intestine
9	chr1:154427800-154464800	Weak transcription	Ovary	ovary
10	chr1:154428600-154437600	Weak transcription	Gastric	stomach
11	chr1:154429800-154446200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:154430400-154438800	Weak transcription	Primary B cells from cord blood	blood
13	chr1:154431000-154437400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:154431200-154437600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:154431600-154441400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:154432000-154437400	Weak transcription	Left Ventricle	heart
17	chr1:154432000-154437800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:154432000-154442000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:154432800-154437400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr1:154434400-154438600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:154434800-154439600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:154435000-154437600	Enhancers	Placenta	Placenta
23	chr1:154435200-154441000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:154435600-154436800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:154435600-154437800	Enhancers	Stomach Mucosa	stomach
26	chr1:154435600-154440000	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:154435600-154441400	Enhancers	Fetal Thymus	thymus
28	chr1:154435800-154437400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:154435800-154438200	Enhancers	HSMMtube	muscle
30	chr1:154436000-154436800	Enhancers	Colonic Mucosa	Colon
31	chr1:154436000-154437200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:154436000-154437400	Enhancers	Duodenum Mucosa	Duodenum
33	chr1:154436000-154437600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr1:154436000-154438600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:154436000-154439000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:154436200-154437200	Weak transcription	Lung	lung
37	chr1:154436200-154437400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:154436200-154437400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:154436200-154437600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:154436200-154438200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:154436200-154440800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:154436200-154441000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:154436200-154441200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:154436400-154437400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:154436400-154437400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:154436400-154437400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:154436400-154437600	Strong transcription	Liver	Liver
48	chr1:154436400-154437600	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:154436400-154437600	Weak transcription	Esophagus	oesophagus
50	chr1:154436400-154437800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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