Variant report

Variant	rs2271808
Chromosome Location	chr4:57899602-57899603
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	chr4:57893930..57897148-chr4:57898459..57902264,3	K562	blood:
2	chr4:57898269..57900679-chr4:57902377..57904496,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1107674	0.84[CEU][hapmap];0.93[TSI][hapmap]
rs13101682	0.94[JPT][hapmap]
rs2412773	0.80[AMR][1000 genomes]
rs6847086	0.84[JPT][hapmap]
rs7661194	0.80[CEU][hapmap];0.84[MEX][hapmap]
rs7680140	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7697176	0.81[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2271808	TXNDC9	cis	parietal	SCAN
rs2271808	IGFBP7	cis	multi-tissue	Pritchard
rs2271808	POLR2B	cis	cerebellum	SCAN
rs2271808	POLR2B	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57846800-57900000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:57848600-57900000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:57849000-57900000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:57856800-57900000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:57858200-57899800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr4:57858400-57899800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:57858400-57899800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:57862200-57900000	Strong transcription	Fetal Muscle Leg	muscle
9	chr4:57863400-57907800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:57870400-57899800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr4:57879400-57899800	Strong transcription	Fetal Kidney	kidney
12	chr4:57887000-57900000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:57887000-57900200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:57887200-57899800	Strong transcription	Adipose Nuclei	Adipose
15	chr4:57887200-57900000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:57887400-57900400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:57889000-57910200	Weak transcription	Esophagus	oesophagus
18	chr4:57889800-57899800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:57889800-57900000	Strong transcription	HSMMtube	muscle
20	chr4:57889800-57900000	Strong transcription	HUVEC	blood vessel
21	chr4:57890000-57900000	Strong transcription	NHEK	skin
22	chr4:57890000-57903000	Strong transcription	HSMM	muscle
23	chr4:57890200-57901000	Strong transcription	NH-A	brain
24	chr4:57890400-57900000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr4:57890400-57900000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:57890400-57900600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:57890400-57903600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:57890400-57905600	Strong transcription	Osteobl	bone
29	chr4:57891400-57900800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:57892000-57900600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:57892000-57901200	Weak transcription	Small Intestine	intestine
32	chr4:57892000-57904400	Weak transcription	Fetal Heart	heart
33	chr4:57892000-57906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:57892000-57908200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:57892200-57908000	Weak transcription	Pancreas	Pancrea
36	chr4:57893200-57900000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr4:57893600-57900800	Weak transcription	Gastric	stomach
38	chr4:57893800-57906600	Weak transcription	Spleen	Spleen
39	chr4:57893800-57908000	Weak transcription	Aorta	Aorta
40	chr4:57894000-57899800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:57894800-57904400	Weak transcription	Hela-S3	cervix
42	chr4:57895000-57901400	Weak transcription	Stomach Mucosa	stomach
43	chr4:57895200-57899800	Strong transcription	Colon Smooth Muscle	Colon
44	chr4:57895200-57900000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:57895800-57900000	Strong transcription	Brain Hippocampus Middle	brain
46	chr4:57895800-57901000	Strong transcription	Left Ventricle	heart
47	chr4:57896000-57900000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:57896600-57904200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr4:57896600-57905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:57896800-57909200	Weak transcription	Psoas Muscle	Psoas

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