Variant report

Variant	rs62490101
Chromosome Location	chr7:139666219-139666220
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139474943..139477721-chr7:139664531..139667077,2	K562	blood:
2	chr7:139665628..139667310-chr7:139694629..139696655,2	K562	blood:
3	chr7:139614469..139616397-chr7:139665107..139667475,2	K562	blood:
4	chr7:139583885..139586800-chr7:139665999..139667812,2	K562	blood:
5	chr7:139658608..139661604-chr7:139664895..139667243,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000059377	Chromatin interaction
ENSG00000064393	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12703488	1.00[AFR][1000 genomes]
rs13230173	1.00[AFR][1000 genomes]
rs35701071	1.00[AFR][1000 genomes]
rs8192856	1.00[AFR][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	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr7:139651400-139670000	Weak transcription	Gastric	stomach
2	chr7:139652000-139668400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:139652200-139691600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr7:139652800-139668000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:139653000-139678200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr7:139653200-139672200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:139653200-139678000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:139653400-139676000	Weak transcription	Adipose Nuclei	Adipose
9	chr7:139654600-139677600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:139655000-139667800	Weak transcription	Colonic Mucosa	Colon
11	chr7:139655000-139677800	Weak transcription	Primary B cells from cord blood	blood
12	chr7:139660200-139666600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:139660200-139669200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:139661200-139668000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:139661800-139666600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:139661800-139670200	Weak transcription	K562	blood
17	chr7:139662400-139666600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:139662600-139666600	Weak transcription	Thymus	Thymus
19	chr7:139662600-139666800	Weak transcription	Spleen	Spleen
20	chr7:139662600-139675000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:139664000-139679000	Weak transcription	Fetal Intestine Small	intestine
22	chr7:139664600-139667200	Strong transcription	Primary T cells from cord blood	blood
23	chr7:139664800-139671000	Weak transcription	Lung	lung
24	chr7:139665800-139668000	Strong transcription	Primary hematopoietic stem cells	blood
25	chr7:139666000-139667400	Strong transcription	Fetal Thymus	thymus

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