Variant report

Variant	rs61149986
Chromosome Location	chr19:40429662-40429663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40424412..40427269-chr19:40428969..40431145,2	K562	blood:

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

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

rs_ID	r²[population]
rs10421180	1.00[EUR][1000 genomes]
rs11882408	1.00[EUR][1000 genomes]
rs1972545	1.00[EUR][1000 genomes]
rs34873737	1.00[EUR][1000 genomes]
rs61140926	1.00[EUR][1000 genomes]
rs7247255	1.00[EUR][1000 genomes]
rs7250697	1.00[EUR][1000 genomes]
rs7252478	1.00[EUR][1000 genomes]
rs73545918	1.00[EUR][1000 genomes]
rs73547678	1.00[EUR][1000 genomes]
rs73547690	1.00[EUR][1000 genomes]
rs73549813	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats 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	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv2483	chr19:40340641-40435505	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv510766	chr19:40344356-40453018	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv482218	chr19:40353963-40440533	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40414400-40433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr19:40418200-40435800	Weak transcription	Brain Anterior Caudate	brain
3	chr19:40418800-40430800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:40420200-40441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:40420400-40430200	Weak transcription	Pancreas	Pancrea
6	chr19:40421800-40430200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:40422000-40432200	Weak transcription	Fetal Intestine Large	intestine
8	chr19:40423400-40430600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr19:40423400-40432400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:40423400-40433600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr19:40423400-40435800	Weak transcription	Brain Hippocampus Middle	brain
12	chr19:40424000-40432800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr19:40424600-40432600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:40425800-40430000	Weak transcription	Colonic Mucosa	Colon
15	chr19:40426000-40431000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr19:40426000-40431400	Weak transcription	Stomach Mucosa	stomach
17	chr19:40426000-40433000	Weak transcription	Gastric	stomach
18	chr19:40426200-40432600	Weak transcription	Fetal Intestine Small	intestine
19	chr19:40426800-40433200	Weak transcription	Fetal Stomach	stomach
20	chr19:40427400-40429800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:40428800-40434000	Strong transcription	Primary T cells from cord blood	blood
22	chr19:40429600-40430000	Strong transcription	Primary B cells from cord blood	blood

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