Variant report

Variant	rs2080902
Chromosome Location	chr5:115200085-115200086
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr5:115199930-115200266	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr5:115199872-115200293	ECC-1	luminal epithelium:	n/a	n/a
3	KAP1	chr5:115199785-115200920	HEK293	kidney:	n/a	n/a
4	CTCF	chr5:115199940-115200090	HCT-116	colon:	n/a	n/a
5	ESR1	chr5:115199824-115200298	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115177438..115179152-chr5:115198132..115200529,2	K562	blood:
2	chr5:115198937..115201136-chr5:115419478..115422611,3	MCF-7	breast:

Variant related genes	Relation type
AP3S1	TF binding region
ENSG00000145782	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000145781	Chromatin interaction
ENSG00000271918	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10039749	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10050876	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1058600	0.82[ASN][1000 genomes]
rs10751460	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11241336	1.00[ASN][1000 genomes]
rs11241337	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12188972	0.95[ASN][1000 genomes]
rs12332653	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12513891	0.99[ASN][1000 genomes]
rs12514553	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12517882	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12519850	0.92[ASN][1000 genomes]
rs12520442	0.92[ASN][1000 genomes]
rs12523122	0.92[ASN][1000 genomes]
rs13157716	1.00[ASN][1000 genomes]
rs13179199	0.96[ASN][1000 genomes]
rs13361489	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs152368	0.99[ASN][1000 genomes]
rs152369	0.97[ASN][1000 genomes]
rs152397	0.97[ASN][1000 genomes]
rs152398	0.98[ASN][1000 genomes]
rs171809	0.96[ASN][1000 genomes]
rs26529	0.99[ASN][1000 genomes]
rs26533	0.80[ASN][1000 genomes]
rs26534	0.81[ASN][1000 genomes]
rs26535	0.81[ASN][1000 genomes]
rs26536	0.85[ASN][1000 genomes]
rs26537	0.91[ASN][1000 genomes]
rs26538	0.96[ASN][1000 genomes]
rs35179959	0.82[ASN][1000 genomes]
rs35238578	0.94[ASN][1000 genomes]
rs35501287	0.99[ASN][1000 genomes]
rs35903246	0.80[ASN][1000 genomes]
rs3756555	0.88[AFR][1000 genomes]
rs3797564	0.90[AFR][1000 genomes]
rs3797565	0.91[ASN][1000 genomes]
rs3797566	0.83[AFR][1000 genomes]
rs3797567	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3797568	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3797569	0.99[ASN][1000 genomes]
rs3797570	0.81[ASN][1000 genomes]
rs41332950	0.92[ASN][1000 genomes]
rs4143542	0.95[ASN][1000 genomes]
rs57633641	0.81[ASN][1000 genomes]
rs58463583	0.86[ASN][1000 genomes]
rs59750231	1.00[ASN][1000 genomes]
rs61381571	0.99[ASN][1000 genomes]
rs6594906	0.81[ASN][1000 genomes]
rs6872406	0.80[ASN][1000 genomes]
rs6879485	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6880372	0.90[ASN][1000 genomes]
rs6880889	0.81[ASN][1000 genomes]
rs71581217	0.92[ASN][1000 genomes]
rs7707539	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7713314	0.99[ASN][1000 genomes]
rs7726368	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3410990	chr5:115177597-115205832	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3382194	chr5:115177673-115205801	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115179800-115205000	Weak transcription	HSMM	muscle
2	chr5:115185600-115218600	Weak transcription	Lung	lung
3	chr5:115187200-115206600	Weak transcription	Ovary	ovary
4	chr5:115187400-115206200	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:115189800-115218600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:115189800-115235800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:115190400-115206000	Weak transcription	Primary B cells from cord blood	blood
8	chr5:115191000-115223000	Weak transcription	Right Ventricle	heart
9	chr5:115192400-115207600	Weak transcription	Pancreas	Pancrea
10	chr5:115192800-115206000	Weak transcription	Left Ventricle	heart
11	chr5:115193200-115200200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:115193200-115207400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:115193200-115239000	Weak transcription	Gastric	stomach
14	chr5:115193600-115234600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:115193800-115205200	Weak transcription	Primary T cells from cord blood	blood
16	chr5:115194000-115206000	Weak transcription	Fetal Lung	lung
17	chr5:115194000-115206000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:115194000-115206200	Weak transcription	Fetal Kidney	kidney
19	chr5:115194000-115211000	Weak transcription	HepG2	liver
20	chr5:115194200-115205200	Weak transcription	HUVEC	blood vessel
21	chr5:115194200-115206000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:115194200-115206200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:115194200-115209000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:115194400-115205000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:115194400-115205000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:115194400-115206000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:115194400-115218000	Weak transcription	Fetal Intestine Small	intestine
28	chr5:115194400-115220800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr5:115195000-115206000	Weak transcription	Fetal Intestine Large	intestine
30	chr5:115195200-115206000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:115195200-115206000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:115195200-115206200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:115195400-115202800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:115195400-115205400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:115195400-115205600	Weak transcription	Adipose Nuclei	Adipose
36	chr5:115195400-115209000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:115195400-115263200	Weak transcription	Aorta	Aorta
38	chr5:115195600-115205800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:115195600-115206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:115195600-115208600	Weak transcription	Osteobl	bone
41	chr5:115195600-115214600	Weak transcription	HSMMtube	muscle
42	chr5:115195800-115206000	Weak transcription	NHDF-Ad	bronchial
43	chr5:115196000-115206000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:115196000-115206000	Weak transcription	Placenta	Placenta
45	chr5:115196000-115211200	Weak transcription	Psoas Muscle	Psoas
46	chr5:115196000-115233600	Weak transcription	Esophagus	oesophagus
47	chr5:115196600-115205400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:115197200-115201800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:115198800-115201800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:115199200-115200200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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