Variant report

Variant	rs75090234
Chromosome Location	chr3:101251408-101251409
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101251094..101253356-chr3:101294700..101296293,2	K562	blood:
2	chr3:101249370..101250910-chr3:101251294..101253449,2	K562	blood:
3	chr3:101251061..101253475-chr3:101292374..101293886,2	K562	blood:
4	chr3:101241908..101244826-chr3:101250601..101253357,3	K562	blood:

Variant related genes	Relation type
ENSG00000242299	Chromatin interaction
ENSG00000081154	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

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	esv3463443	chr3:101251356-101254118	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv3463441	chr3:101251374-101254124	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3463444	chr3:101251401-101254079	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3463445	chr3:101251401-101254079	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs75090234	LOC285359	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101239200-101252000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr3:101247600-101251800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:101248000-101251800	Enhancers	Primary T cells from cord blood	blood
4	chr3:101248200-101251800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:101248200-101252000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr3:101248400-101251600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:101249400-101252800	Enhancers	HUVEC	blood vessel
8	chr3:101249600-101254000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:101250000-101251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:101250000-101252000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr3:101250200-101253200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:101250400-101252200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:101250400-101253000	Enhancers	NHEK	skin
14	chr3:101250600-101252000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:101250600-101253000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:101250800-101251600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:101251000-101252400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:101251000-101252800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:101251200-101252200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:101251200-101252200	Enhancers	HMEC	breast
21	chr3:101251200-101252400	Flanking Active TSS	K562	blood
22	chr3:101251400-101252200	Enhancers	Placenta	Placenta

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