Variant report

Variant	rs57845354
Chromosome Location	chr12:49834389-49834390
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	chr12:49834174..49835884-chr12:49968043..49969784,2	K562	blood:
2	chr12:49759541..49761666-chr12:49832483..49834672,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123352	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61481988	0.88[AFR][1000 genomes]
rs73297206	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
2	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49764200-49840200	Weak transcription	Fetal Lung	lung
2	chr12:49798400-49856000	Weak transcription	Primary T cells from cord blood	blood
3	chr12:49798600-49840000	Weak transcription	Hela-S3	cervix
4	chr12:49812600-49849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:49816000-49848800	Weak transcription	Fetal Kidney	kidney
6	chr12:49820400-49854400	Weak transcription	Dnd41	blood
7	chr12:49822800-49842600	Weak transcription	NHLF	lung
8	chr12:49823000-49835600	Weak transcription	HUVEC	blood vessel
9	chr12:49823000-49836200	Weak transcription	HMEC	breast
10	chr12:49823000-49840200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:49823000-49840200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:49823000-49854200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:49823000-49856000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:49823000-49915800	Weak transcription	Primary B cells from cord blood	blood
15	chr12:49823200-49856000	Weak transcription	NHEK	skin
16	chr12:49823200-49856400	Weak transcription	HSMM	muscle
17	chr12:49823400-49840000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:49823400-49854400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:49823400-49856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:49823400-49857400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:49823400-49876000	Weak transcription	Osteobl	bone
22	chr12:49825800-49839400	Weak transcription	Fetal Stomach	stomach
23	chr12:49828000-49863400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:49829400-49855000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:49831200-49849000	Weak transcription	NH-A	brain
26	chr12:49831600-49852000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:49831800-49838400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:49832400-49839800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:49832800-49835200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:49833000-49849200	Weak transcription	Fetal Intestine Large	intestine
31	chr12:49833000-49849800	Weak transcription	K562	blood
32	chr12:49833200-49835400	Weak transcription	GM12878-XiMat	blood
33	chr12:49833400-49839200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:49833400-49848600	Weak transcription	Psoas Muscle	Psoas
35	chr12:49833600-49835400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:49833600-49835600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:49833600-49849800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:49833600-49854600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:49834000-49840000	Weak transcription	A549	lung
40	chr12:49834000-49849400	Weak transcription	Left Ventricle	heart
41	chr12:49834200-49839400	Weak transcription	Fetal Intestine Small	intestine
42	chr12:49834200-49840200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:49834200-49847400	Weak transcription	HepG2	liver

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