Variant report

Variant	rs7982446
Chromosome Location	chr13:110410715-110410716
allele	A/G
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	POLR2A	chr13:110410399-110411114	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110410515..110416415-chr13:110436559..110440960,7	K562	blood:
2	chr13:110410426..110416204-chr13:110437300..110441341,7	K562	blood:

Variant related genes	Relation type
ENSG00000255813	TF binding region
ENSG00000185950	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1044364	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583444	1.00[ASN][1000 genomes]
rs12583454	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12584136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584954	0.85[EUR][1000 genomes]
rs41275080	0.91[AFR][1000 genomes]
rs7320328	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs73606279	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv526943	chr13:110393477-110421884	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110396400-110416400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:110396600-110411800	Weak transcription	Fetal Kidney	kidney
3	chr13:110396600-110412200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr13:110396600-110412800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:110396600-110417000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:110396800-110411200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr13:110396800-110417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr13:110397000-110416400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:110397000-110428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr13:110397200-110411400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:110397200-110430400	Weak transcription	NHLF	lung
12	chr13:110397400-110411400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:110397400-110419400	Weak transcription	Lung	lung
14	chr13:110401800-110430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:110402200-110413200	Strong transcription	HSMM	muscle
16	chr13:110403200-110416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:110403200-110430600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr13:110403400-110414600	Weak transcription	Esophagus	oesophagus
19	chr13:110404600-110411200	Weak transcription	Right Atrium	heart
20	chr13:110404600-110412400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr13:110404800-110411400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr13:110405000-110412800	Weak transcription	Pancreas	Pancrea
23	chr13:110405000-110416600	Weak transcription	Small Intestine	intestine
24	chr13:110405200-110413200	Weak transcription	Right Ventricle	heart
25	chr13:110405800-110411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:110405800-110413000	Weak transcription	Gastric	stomach
27	chr13:110406200-110429400	Weak transcription	Primary B cells from cord blood	blood
28	chr13:110406800-110413400	Weak transcription	NHDF-Ad	bronchial
29	chr13:110407000-110411200	Weak transcription	Fetal Brain Male	brain
30	chr13:110407400-110423400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr13:110408600-110412800	Weak transcription	Fetal Brain Female	brain
32	chr13:110408600-110414600	Weak transcription	Fetal Intestine Small	intestine
33	chr13:110408600-110416400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr13:110408600-110416400	Weak transcription	HSMMtube	muscle
35	chr13:110408600-110416600	Weak transcription	Fetal Muscle Leg	muscle
36	chr13:110408600-110416800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr13:110408600-110416800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr13:110408600-110417000	Weak transcription	NH-A	brain
39	chr13:110408600-110417200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr13:110408600-110417400	Weak transcription	Fetal Stomach	stomach
41	chr13:110408600-110421600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:110408600-110422800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr13:110408600-110423800	Weak transcription	Placenta	Placenta
44	chr13:110408600-110424400	Weak transcription	Spleen	Spleen
45	chr13:110408600-110430400	Weak transcription	Colonic Mucosa	Colon
46	chr13:110408800-110412600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr13:110408800-110414000	Weak transcription	Colon Smooth Muscle	Colon
48	chr13:110408800-110414000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr13:110408800-110414400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr13:110408800-110414800	Weak transcription	Stomach Smooth Muscle	stomach

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