Variant report

Variant	rs2421097
Chromosome Location	chr2:73172445-73172446
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	chr2:73170607..73172644-chr2:73173250..73175751,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10185826	0.86[JPT][hapmap]
rs11126387	0.85[CEU][hapmap];0.80[CHD][hapmap];0.88[JPT][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs12473812	0.86[JPT][hapmap]
rs12713779	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17008495	0.86[JPT][hapmap]
rs1898442	0.86[JPT][hapmap]
rs2077586	1.00[JPT][hapmap]
rs6722190	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs746212	0.82[ASN][1000 genomes]
rs999494	0.86[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
rs2421097	MPHOSPH10	cis	cerebellum	SCAN

Chromatin state (count:70 , 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	chr2:73166800-73172600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:73166800-73182400	Weak transcription	Fetal Lung	lung
12	chr2:73167200-73174400	Strong transcription	Spleen	Spleen
13	chr2:73167200-73178400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:73167600-73207400	Weak transcription	A549	lung
15	chr2:73167800-73176000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:73168200-73174200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:73168200-73177200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:73168200-73181000	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:73168400-73182000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:73168600-73175800	Strong transcription	Liver	Liver
21	chr2:73168600-73182400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:73168800-73173000	Strong transcription	Fetal Stomach	stomach
23	chr2:73168800-73174200	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:73168800-73177000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:73168800-73177600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:73168800-73178200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:73168800-73226800	Weak transcription	NHLF	lung
28	chr2:73169000-73173000	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:73169000-73183200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:73169000-73191800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:73169200-73172600	Strong transcription	Gastric	stomach
32	chr2:73169200-73177400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:73169200-73177600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:73169200-73178400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:73169200-73198200	Weak transcription	Brain Substantia Nigra	brain
36	chr2:73169200-73210600	Weak transcription	Pancreas	Pancrea
37	chr2:73169600-73173400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:73169600-73175800	Weak transcription	HMEC	breast
39	chr2:73169800-73197000	Weak transcription	HSMMtube	muscle
40	chr2:73169800-73210000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:73170000-73172800	Weak transcription	Thymus	Thymus
42	chr2:73170000-73188400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:73170200-73172800	Strong transcription	Brain Anterior Caudate	brain
44	chr2:73170400-73172800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:73170600-73172600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:73170600-73172800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr2:73170600-73172800	Strong transcription	Aorta	Aorta
48	chr2:73171000-73172800	Strong transcription	Fetal Intestine Small	intestine
49	chr2:73171200-73177800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:73171200-73209400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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