Variant report

Variant	rs4703254
Chromosome Location	chr5:102892343-102892344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:102891830..102893386-chr5:102897024..102899095,2	K562	blood:
2	chr5:102892137..102895654-chr5:102896197..102900992,7	MCF-7	breast:
3	chr5:102891995..102895213-chr5:102895551..102898444,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112874	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10044216	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10045774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10057908	0.96[ASN][1000 genomes]
rs11750125	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11956617	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs159166	0.81[ASN][1000 genomes]
rs159167	0.81[ASN][1000 genomes]
rs159169	0.81[ASN][1000 genomes]
rs169799	0.99[ASN][1000 genomes]
rs169800	0.99[ASN][1000 genomes]
rs1813569	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1988929	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2048150	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2112340	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2401010	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs294041	0.97[ASN][1000 genomes]
rs294044	0.96[ASN][1000 genomes]
rs294045	0.99[ASN][1000 genomes]
rs294048	0.99[ASN][1000 genomes]
rs294098	0.94[ASN][1000 genomes]
rs3734087	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs409474	0.94[ASN][1000 genomes]
rs443022	0.98[ASN][1000 genomes]
rs458304	0.94[ASN][1000 genomes]
rs4703253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6596534	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7724372	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs822416	0.99[ASN][1000 genomes]
rs822418	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882523	chr5:102687151-103342745	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1031600	chr5:102728430-103013575	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1025561	chr5:102744280-103152495	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv537832	chr5:102744280-103152495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1025859	chr5:102744479-103710290	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv537833	chr5:102744479-103710290	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1017730	chr5:102887970-103013575	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv537834	chr5:102887970-103013575	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1017683	chr5:102887970-103110722	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv537835	chr5:102887970-103110722	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:102874200-102897400	Weak transcription	Pancreas	Pancrea
2	chr5:102875800-102897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:102879800-102897200	Weak transcription	Brain Germinal Matrix	brain
4	chr5:102879800-102897400	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:102880200-102897200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:102881200-102897800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:102882400-102897400	Weak transcription	Psoas Muscle	Psoas
8	chr5:102882800-102897400	Weak transcription	Fetal Heart	heart
9	chr5:102882800-102897600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:102883200-102897400	Weak transcription	GM12878-XiMat	blood
11	chr5:102884200-102894000	Weak transcription	NHEK	skin
12	chr5:102884600-102897400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:102884600-102897400	Weak transcription	HSMMtube	muscle
14	chr5:102884600-102897400	Weak transcription	NH-A	brain
15	chr5:102884600-102898000	Weak transcription	Small Intestine	intestine
16	chr5:102884800-102893400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:102885200-102897400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:102885200-102897400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:102885200-102897400	Weak transcription	Fetal Stomach	stomach
20	chr5:102885200-102897400	Weak transcription	Lung	lung
21	chr5:102885200-102897800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:102885200-102897800	Weak transcription	Esophagus	oesophagus
23	chr5:102885400-102894400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:102885400-102896000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:102885400-102897200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:102885400-102897600	Weak transcription	Colonic Mucosa	Colon
27	chr5:102885400-102897800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:102885400-102897800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:102885600-102893600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:102885600-102894200	Weak transcription	Fetal Thymus	thymus
31	chr5:102885600-102897600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:102885800-102897400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:102886200-102897400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:102886200-102897400	Weak transcription	Fetal Brain Female	brain
35	chr5:102886200-102897600	Weak transcription	Primary T cells from cord blood	blood
36	chr5:102886200-102897800	Weak transcription	Placenta	Placenta
37	chr5:102886400-102892400	Strong transcription	Fetal Intestine Large	intestine
38	chr5:102886400-102897200	Weak transcription	Hela-S3	cervix
39	chr5:102886600-102892400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr5:102886600-102897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:102886600-102897400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:102886600-102897400	Weak transcription	NHLF	lung
43	chr5:102886600-102898000	Weak transcription	Spleen	Spleen
44	chr5:102886800-102896800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:102886800-102897600	Weak transcription	Primary B cells from cord blood	blood
46	chr5:102886800-102897600	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:102887200-102897000	Weak transcription	Fetal Intestine Small	intestine
48	chr5:102888200-102894200	Weak transcription	Ovary	ovary
49	chr5:102888200-102897000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:102888200-102897000	Weak transcription	Fetal Brain Male	brain

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