Variant report

Variant	rs6493530
Chromosome Location	chr15:31523772-31523773
allele	A/T
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	RELA	chr15:31522701-31523942	GM15510	blood:	n/a	n/a
2	RELA	chr15:31522814-31523801	GM10847	blood:	n/a	n/a
3	POLR2A	chr15:31519660-31523811	Raji	blood:	n/a	n/a
4	POLR2A	chr15:31519559-31524134	GM18505	blood:	n/a	n/a
5	POLR2A	chr15:31515881-31524142	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31507734..31509504-chr15:31521434..31524217,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259772	TF binding region
ENSG00000259448	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12323983	1.00[EUR][1000 genomes]
rs12324329	1.00[EUR][1000 genomes]
rs12324591	1.00[EUR][1000 genomes]
rs4238553	1.00[EUR][1000 genomes]
rs4304986	0.82[AFR][1000 genomes]
rs4779845	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6493531	0.82[YRI][hapmap]
rs7162278	0.85[AFR][1000 genomes]
rs7162751	0.86[AFR][1000 genomes]
rs73381205	1.00[EUR][1000 genomes]
rs74013332	1.00[EUR][1000 genomes]
rs754611	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531138	chr15:30653877-31609679	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv1036018	chr15:31140415-31544888	Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv1052722	chr15:31261834-31609680	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv542315	chr15:31261834-31609680	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
9	nsv903838	chr15:31452911-31672128	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv903839	chr15:31495113-31576677	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31516800-31525400	Weak transcription	Right Ventricle	heart
2	chr15:31518400-31540600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:31520000-31524200	Enhancers	Thymus	Thymus
4	chr15:31520800-31525200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr15:31520800-31533600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:31521200-31523800	Enhancers	Esophagus	oesophagus
7	chr15:31521400-31528600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:31521600-31526400	Weak transcription	Left Ventricle	heart
9	chr15:31521800-31524600	Weak transcription	Fetal Heart	heart
10	chr15:31521800-31526800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr15:31521800-31527000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr15:31521800-31527200	Weak transcription	Fetal Intestine Small	intestine
13	chr15:31521800-31527800	Weak transcription	Gastric	stomach
14	chr15:31522000-31525200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr15:31522000-31527800	Weak transcription	Stomach Mucosa	stomach
16	chr15:31522400-31524200	Enhancers	Fetal Thymus	thymus
17	chr15:31522600-31524200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:31523000-31524400	Enhancers	Primary B cells from cord blood	blood
19	chr15:31523000-31529600	Enhancers	Primary B cells from peripheral blood	blood
20	chr15:31523200-31524000	Enhancers	Spleen	Spleen
21	chr15:31523600-31524200	Enhancers	GM12878-XiMat	blood

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