Variant report

Variant	rs6715849
Chromosome Location	chr2:100306378-100306379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100299075..100301872-chr2:100304774..100308088,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13402908	0.82[ASN][1000 genomes]
rs1543254	0.81[EUR][1000 genomes]
rs2043007	0.82[EUR][1000 genomes]
rs2309723	0.81[EUR][1000 genomes]
rs2309730	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6761895	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs882855	0.92[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100253200-100308800	Weak transcription	Gastric	stomach
2	chr2:100257600-100308600	Weak transcription	Thymus	Thymus
3	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:100282600-100308600	Weak transcription	Ovary	ovary
5	chr2:100286600-100336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:100291200-100310800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:100291600-100307800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr2:100294600-100318400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:100295600-100311800	Weak transcription	Fetal Brain Female	brain
10	chr2:100296200-100311600	Weak transcription	Fetal Brain Male	brain
11	chr2:100296400-100307800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:100296600-100308400	Weak transcription	Right Atrium	heart
13	chr2:100297000-100312400	Weak transcription	Fetal Lung	lung
14	chr2:100297800-100308600	Weak transcription	Lung	lung
15	chr2:100298000-100308400	Weak transcription	Adipose Nuclei	Adipose
16	chr2:100299600-100310800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:100303600-100336800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:100305000-100306400	Enhancers	HSMMtube	muscle
19	chr2:100305000-100307200	Weak transcription	Primary B cells from cord blood	blood
20	chr2:100305000-100309600	Enhancers	Fetal Muscle Leg	muscle
21	chr2:100305200-100318000	Weak transcription	Primary T cells from cord blood	blood
22	chr2:100305800-100307400	Weak transcription	Placenta	Placenta
23	chr2:100305800-100308000	Weak transcription	Spleen	Spleen
24	chr2:100306000-100308400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:100306000-100313600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:100306000-100317200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:100306200-100308800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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