Variant report

Variant	rs16849717
Chromosome Location	chr4:74454861-74454862
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74453887..74455489-chr4:74521992..74524890,2	MCF-7	breast:
2	chr4:74448932..74451410-chr4:74453636..74455838,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10003721	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs1247669	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17838981	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs1919471	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2272427	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs3756068	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs55783483	0.91[ASN][1000 genomes]
rs72863058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7658159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16849717	RASSF6	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74438000-74464800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:74440200-74455200	Weak transcription	Fetal Intestine Small	intestine
3	chr4:74440200-74457400	Weak transcription	Pancreas	Pancrea
4	chr4:74440200-74472600	Weak transcription	Gastric	stomach
5	chr4:74441200-74464800	Weak transcription	Placenta	Placenta
6	chr4:74443600-74455400	Weak transcription	Stomach Mucosa	stomach
7	chr4:74446200-74456000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:74447000-74456000	Strong transcription	Fetal Thymus	thymus
9	chr4:74447600-74455000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:74447600-74463400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:74448800-74456000	Weak transcription	Fetal Intestine Large	intestine
12	chr4:74449000-74470200	Weak transcription	Primary T cells from cord blood	blood
13	chr4:74449800-74455200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:74449800-74461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:74450200-74455200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:74450600-74455000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:74451000-74455400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:74451200-74456200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:74451200-74457200	Weak transcription	Thymus	Thymus
20	chr4:74453800-74457000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:74454400-74455000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:74454600-74455000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:74454600-74455000	Enhancers	NHEK	skin
24	chr4:74454600-74456600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:74454600-74456600	Enhancers	Primary B cells from peripheral blood	blood
26	chr4:74454800-74455000	Enhancers	Liver	Liver
27	chr4:74454800-74455200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:74454800-74455600	Flanking Active TSS	GM12878-XiMat	blood
29	chr4:74454800-74456000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:74454800-74456400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:74454800-74456600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:74454800-74456600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:74454800-74456600	Enhancers	HMEC	breast
34	chr4:74454800-74458600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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