Variant report

Variant	rs190535249
Chromosome Location	chr7:12683818-12683819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12676312..12680625-chr7:12682268..12685378,4	K562	blood:
2	chr7:12681447..12684050-chr7:12723257..12726126,2	K562	blood:
3	chr7:12678093..12680309-chr7:12682358..12684176,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271253	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv1021371	chr7:12530491-12710429	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1017577	chr7:12530491-12722947	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1030764	chr7:12532287-12710429	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1019962	chr7:12683139-12699056	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12663800-12693000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:12664800-12700200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:12675800-12686000	Weak transcription	Adipose Nuclei	Adipose
4	chr7:12675800-12699800	Weak transcription	Esophagus	oesophagus
5	chr7:12678000-12687000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:12678200-12687000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:12678600-12685800	Weak transcription	Stomach Mucosa	stomach
8	chr7:12679000-12685800	Weak transcription	Hela-S3	cervix
9	chr7:12679000-12688600	Weak transcription	Fetal Kidney	kidney
10	chr7:12679000-12693800	Weak transcription	Colonic Mucosa	Colon
11	chr7:12679400-12686200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:12679800-12685400	Weak transcription	A549	lung
13	chr7:12681000-12685800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:12681000-12685800	Weak transcription	Placenta	Placenta
15	chr7:12681000-12687000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:12681000-12688400	Weak transcription	Fetal Stomach	stomach
17	chr7:12681400-12690800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr7:12682000-12684200	Strong transcription	Brain Anterior Caudate	brain
19	chr7:12682400-12693400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr7:12682800-12684000	Enhancers	Primary B cells from peripheral blood	blood
21	chr7:12682800-12687000	Weak transcription	NHDF-Ad	bronchial
22	chr7:12683000-12684000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr7:12683000-12686800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:12683200-12684000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr7:12683200-12685200	Weak transcription	Osteobl	bone
26	chr7:12683200-12685400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:12683400-12687000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:12683400-12687400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:12683600-12685000	Weak transcription	HepG2	liver
30	chr7:12683600-12685400	Weak transcription	NH-A	brain
31	chr7:12683600-12690400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr7:12683600-12693000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:12683800-12685600	Weak transcription	K562	blood
34	chr7:12683800-12688400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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