Variant report

Variant	rs6812708
Chromosome Location	chr4:15541609-15541610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15533209..15536881-chr4:15540380..15545720,5	K562	blood:
2	chr4:15530889..15533496-chr4:15539893..15541724,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10007081	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1125378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12500587	0.84[CHD][hapmap];0.85[JPT][hapmap]
rs13131199	0.90[JPT][hapmap]
rs1558572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4235379	0.80[CHD][hapmap]
rs6811445	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7686668	0.90[JPT][hapmap]
rs7696938	0.80[CHD][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6812708	FAM200B	cis	parietal	SCAN
rs6812708	FBXL5	Cis_1M	lymphoblastoid	RTeQTL
rs6812708	CC2D2A	cis	parietal	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15487400-15570400	Weak transcription	Psoas Muscle	Psoas
2	chr4:15495600-15559400	Weak transcription	HSMMtube	muscle
3	chr4:15502800-15549200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr4:15502800-15577600	Weak transcription	Right Ventricle	heart
5	chr4:15508200-15556400	Weak transcription	Colonic Mucosa	Colon
6	chr4:15508800-15545800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:15509200-15564400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:15509600-15553400	Weak transcription	HepG2	liver
9	chr4:15512000-15580000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:15513000-15562400	Weak transcription	Primary B cells from cord blood	blood
11	chr4:15515400-15545200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:15516000-15545600	Weak transcription	Fetal Thymus	thymus
13	chr4:15517800-15551600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:15517800-15593600	Weak transcription	HUVEC	blood vessel
15	chr4:15520000-15572400	Weak transcription	Small Intestine	intestine
16	chr4:15520400-15544200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:15520600-15544400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:15520600-15544600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:15520600-15545200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:15520600-15553400	Weak transcription	A549	lung
21	chr4:15520800-15545000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:15522200-15544600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:15526000-15558200	Weak transcription	Spleen	Spleen
24	chr4:15530200-15556600	Weak transcription	HSMM	muscle
25	chr4:15530800-15554600	Weak transcription	Placenta	Placenta
26	chr4:15530800-15554600	Weak transcription	NH-A	brain
27	chr4:15531200-15545200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:15531600-15548600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:15533000-15554800	Weak transcription	Fetal Brain Male	brain
30	chr4:15537200-15565000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:15537400-15542600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr4:15537400-15621000	Weak transcription	Hela-S3	cervix
33	chr4:15537800-15549000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:15538000-15545800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:15538200-15543800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:15538400-15541800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:15538600-15546400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:15538600-15548600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:15539000-15570400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:15539800-15545200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:15540000-15555600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:15540200-15542400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr4:15540200-15542400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:15540200-15542400	Weak transcription	Left Ventricle	heart
45	chr4:15540200-15543000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr4:15540200-15543200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:15540200-15543600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:15540200-15543600	Weak transcription	Fetal Heart	heart
49	chr4:15540200-15544000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr4:15540200-15544200	Weak transcription	Pancreas	Pancrea

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