Variant report

Variant	rs2988040
Chromosome Location	chr13:79768959-79768960
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:79764410..79766214-chr13:79768697..79771412,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1755463	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2988036	0.92[EUR][1000 genomes]
rs2988037	0.92[EUR][1000 genomes]
rs2988038	0.92[EUR][1000 genomes]
rs2988041	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2988042	0.92[EUR][1000 genomes]
rs2988043	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2988045	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2988046	0.92[EUR][1000 genomes]
rs2988047	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2991444	0.92[EUR][1000 genomes]
rs2991445	0.92[EUR][1000 genomes]
rs588755	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597726	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662378	1.00[EUR][1000 genomes]
rs662380	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs671700	0.92[EUR][1000 genomes]
rs680178	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916612	chr13:79669876-79820692	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1045334	chr13:79671094-79809717	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79757800-79775000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:79764200-79771000	Enhancers	Primary B cells from peripheral blood	blood
3	chr13:79764600-79770800	Enhancers	Primary B cells from cord blood	blood
4	chr13:79765400-79771600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:79765600-79769000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:79765600-79769000	Weak transcription	Spleen	Spleen
7	chr13:79766600-79769200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:79766600-79769800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:79767600-79769200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr13:79767600-79769800	Flanking Active TSS	GM12878-XiMat	blood
11	chr13:79768000-79769000	Enhancers	Primary T cells from cord blood	blood
12	chr13:79768000-79769200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr13:79768000-79769200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr13:79768000-79769400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr13:79768000-79769600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:79768200-79769200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr13:79768200-79769200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr13:79768200-79769200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr13:79768200-79769200	Enhancers	Dnd41	blood
20	chr13:79768200-79769600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr13:79768400-79770400	Enhancers	Thymus	Thymus
22	chr13:79768800-79769000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr13:79768800-79769600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr13:79768800-79770200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:79768800-79771000	Enhancers	Fetal Thymus	thymus

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