Variant report

Variant	rs1304392
Chromosome Location	chr13:98091008-98091009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:98088366..98091907-chr13:98092585..98097383,6	K562	blood:
2	chr13:98085242..98089442-chr13:98089467..98091513,3	MCF-7	breast:
3	chr13:98085550..98088911-chr13:98089410..98093711,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125249	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1041270	0.84[ASN][1000 genomes]
rs1159278	0.91[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];0.88[YRI][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11616843	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12873919	0.90[LWK][hapmap];1.00[YRI][hapmap]
rs1467693	0.87[ASN][1000 genomes]
rs2389908	1.00[YRI][hapmap]
rs2389909	0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs2389910	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7322222	0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7328713	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9513245	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9516938	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9554396	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9634445	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv1791802	chr13:98076911-98096882	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1804050	chr13:98076911-98096882	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1794802	chr13:98076911-98106042	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1797132	chr13:98076911-98106042	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98087400-98101000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:98087400-98122200	Weak transcription	Gastric	stomach
3	chr13:98087600-98091200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr13:98087600-98091200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr13:98087600-98101200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:98087600-98104600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:98087600-98116400	Weak transcription	Esophagus	oesophagus
8	chr13:98087600-98124400	Weak transcription	Pancreas	Pancrea
9	chr13:98087800-98092200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr13:98088400-98091200	Enhancers	Brain Substantia Nigra	brain
11	chr13:98088400-98091400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr13:98088400-98095200	Weak transcription	Left Ventricle	heart
13	chr13:98088400-98098800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr13:98088400-98101000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:98088400-98101000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:98088400-98108000	Weak transcription	Fetal Thymus	thymus
17	chr13:98088400-98111600	Weak transcription	Psoas Muscle	Psoas
18	chr13:98088400-98116400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr13:98088600-98092000	Enhancers	HepG2	liver
20	chr13:98088600-98093000	Weak transcription	A549	lung
21	chr13:98088600-98095200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr13:98088600-98095800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr13:98088600-98097000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:98088600-98112800	Weak transcription	Thymus	Thymus
25	chr13:98088600-98119600	Weak transcription	NH-A	brain
26	chr13:98088800-98091200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:98088800-98091200	Weak transcription	HSMM	muscle
28	chr13:98088800-98091800	Weak transcription	HSMMtube	muscle
29	chr13:98088800-98105600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr13:98088800-98105600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr13:98088800-98111800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr13:98088800-98116400	Weak transcription	Fetal Intestine Small	intestine
33	chr13:98088800-98118000	Weak transcription	HMEC	breast
34	chr13:98088800-98118400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:98088800-98119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:98089000-98091200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr13:98089000-98100600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr13:98089000-98116400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr13:98089200-98091400	Enhancers	Adipose Nuclei	Adipose
40	chr13:98089200-98091600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr13:98089200-98091600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr13:98089200-98091800	Enhancers	Brain Hippocampus Middle	brain
43	chr13:98089200-98091800	Enhancers	HUVEC	blood vessel
44	chr13:98089200-98097200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr13:98089200-98099400	Weak transcription	Primary B cells from cord blood	blood
46	chr13:98089200-98101000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr13:98089200-98105200	Weak transcription	Fetal Intestine Large	intestine
48	chr13:98089200-98111800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:98089200-98111800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr13:98089200-98116400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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