Variant report

Variant	rs2164733
Chromosome Location	chr2:73172972-73172973
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	chr2:73162864..73164721-chr2:73172732..73175710,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10183113	0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10185826	0.85[JPT][hapmap]
rs10196456	0.85[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10196568	0.95[ASN][1000 genomes]
rs1048704	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11686652	0.97[ASN][1000 genomes]
rs12473812	0.85[JPT][hapmap]
rs17008501	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1898442	0.85[JPT][hapmap]
rs59833760	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59924850	0.97[ASN][1000 genomes]
rs6728203	0.95[ASN][1000 genomes]
rs6748324	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6757051	0.95[ASN][1000 genomes]
rs73945638	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs755409	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs999494	0.85[JPT][hapmap]

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	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2164733	SFXN5	cis	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73161400-73210200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:73164200-73179000	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:73164400-73182800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:73164400-73190600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:73164400-73192800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:73164400-73193000	Weak transcription	Ovary	ovary
7	chr2:73164400-73193600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:73165000-73175800	Weak transcription	Esophagus	oesophagus
9	chr2:73166200-73210000	Weak transcription	Colonic Mucosa	Colon
10	chr2:73166800-73182400	Weak transcription	Fetal Lung	lung
11	chr2:73167200-73174400	Strong transcription	Spleen	Spleen
12	chr2:73167200-73178400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:73167600-73207400	Weak transcription	A549	lung
14	chr2:73167800-73176000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:73168200-73174200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:73168200-73177200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:73168200-73181000	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:73168400-73182000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:73168600-73175800	Strong transcription	Liver	Liver
20	chr2:73168600-73182400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:73168800-73173000	Strong transcription	Fetal Stomach	stomach
22	chr2:73168800-73174200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:73168800-73177000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:73168800-73177600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:73168800-73178200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:73168800-73226800	Weak transcription	NHLF	lung
27	chr2:73169000-73173000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:73169000-73183200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:73169000-73191800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:73169200-73177400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:73169200-73177600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:73169200-73178400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:73169200-73198200	Weak transcription	Brain Substantia Nigra	brain
34	chr2:73169200-73210600	Weak transcription	Pancreas	Pancrea
35	chr2:73169600-73173400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:73169600-73175800	Weak transcription	HMEC	breast
37	chr2:73169800-73197000	Weak transcription	HSMMtube	muscle
38	chr2:73169800-73210000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:73170000-73188400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:73171200-73177800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:73171200-73209400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:73171400-73191800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:73171600-73177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:73171600-73181000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:73171600-73182200	Weak transcription	Brain Germinal Matrix	brain
46	chr2:73171600-73187600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:73171800-73183200	Weak transcription	HepG2	liver
48	chr2:73171800-73200800	Weak transcription	Placenta	Placenta
49	chr2:73172000-73174400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:73172000-73177600	Enhancers	Fetal Brain Male	brain

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