Variant report

Variant	rs189111188
Chromosome Location	chr2:48649864-48649865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48649466..48652347-chr2:48667979..48669728,2	K562	blood:
2	chr2:48648611..48650964-chr2:48651861..48653662,2	MCF-7	breast:
3	chr2:48336922..48340984-chr2:48645140..48651052,10	MCF-7	breast:
4	chr2:48649795..48653171-chr2:48665814..48667830,3	K562	blood:
5	chr2:48541072..48542749-chr2:48647809..48650233,2	K562	blood:
6	chr2:48649540..48651703-chr2:48667084..48669876,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272663	Chromatin interaction
ENSG00000170802	Chromatin interaction
ENSG00000162869	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv518718	chr2:48624007-48650308	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv524919	chr2:48649738-48658779	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48643600-48651200	Weak transcription	Psoas Muscle	Psoas
2	chr2:48645200-48651000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:48647800-48651800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:48648000-48650200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:48648000-48650200	Weak transcription	NH-A	brain
6	chr2:48648000-48650200	Weak transcription	NHLF	lung
7	chr2:48648000-48651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:48648000-48655000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:48648200-48650200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:48648200-48651600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:48648400-48650000	Weak transcription	NHDF-Ad	bronchial
12	chr2:48648400-48650200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:48648400-48650200	Weak transcription	HMEC	breast
14	chr2:48648400-48650200	Weak transcription	NHEK	skin
15	chr2:48648400-48650400	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:48648400-48650400	Weak transcription	Osteobl	bone
17	chr2:48648400-48651600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:48648400-48651600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:48648400-48652400	Weak transcription	K562	blood
20	chr2:48648600-48650400	Weak transcription	A549	lung
21	chr2:48649400-48651000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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