Variant report

Variant	rs10212341
Chromosome Location	chr3:56669148-56669149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:56669053-56669818	K562	blood:	n/a	n/a
2	POLR2A	chr3:56668999-56669337	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:56668675..56670931-chr3:56674761..56676803,3	K562	blood:
2	chr3:56668549..56671040-chr3:56673314..56676261,3	K562	blood:
3	chr3:56668636..56671156-chr3:56678390..56680072,2	K562	blood:

Variant related genes	Relation type
FAM208A	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1045926	0.86[YRI][hapmap];0.80[AMR][1000 genomes]
rs10865999	0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10866000	0.83[AMR][1000 genomes]
rs11130536	0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11130538	0.88[YRI][hapmap];0.84[AMR][1000 genomes]
rs11706624	0.90[YRI][hapmap]
rs11714608	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715395	0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11921326	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12490749	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13075010	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs13097030	0.90[YRI][hapmap]
rs1491166	0.84[MEX][hapmap]
rs17216685	0.89[CHD][hapmap]
rs17216740	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2004199	0.86[LWK][hapmap];0.84[MEX][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs2029464	0.84[MEX][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2029465	0.82[YRI][hapmap]
rs2054987	0.90[YRI][hapmap]
rs2054988	0.90[YRI][hapmap]
rs2291499	0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2291501	0.86[LWK][hapmap];0.84[MEX][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2317133	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2317245	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3732512	0.87[AMR][1000 genomes]
rs4681951	0.84[MEX][hapmap];0.90[YRI][hapmap]
rs4681963	0.90[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57800049	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6445796	0.80[CEU][hapmap]
rs6445797	0.80[CEU][hapmap]
rs6445805	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445806	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6774323	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6802051	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7612599	0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7646924	0.84[ASN][1000 genomes]
rs9820759	0.90[YRI][hapmap]
rs9823108	0.82[AMR][1000 genomes]
rs9827472	0.86[ASN][1000 genomes]
rs9840528	0.84[AMR][1000 genomes]
rs9842283	0.90[YRI][hapmap]
rs9845096	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9845655	0.83[AMR][1000 genomes]
rs9858728	0.86[LWK][hapmap];0.90[YRI][hapmap]
rs9862490	0.84[MEX][hapmap]
rs9881005	0.89[YRI][hapmap]
rs9985253	0.93[YRI][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10212341	DNAH12	cis	cerebellum	SCAN
rs10212341	CHDH	cis	cerebellum	SCAN
rs10212341	ERC2	cis	cerebellum	SCAN
rs10212341	CCDC66	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56640800-56695400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:56642800-56713400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:56644400-56686400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:56644800-56669800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:56644800-56708200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr3:56645400-56705200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:56646800-56673600	Weak transcription	Right Ventricle	heart
8	chr3:56647000-56672200	Weak transcription	Gastric	stomach
9	chr3:56647400-56707400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr3:56647400-56707800	Strong transcription	Fetal Thymus	thymus
11	chr3:56651400-56702000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:56652800-56701400	Weak transcription	Psoas Muscle	Psoas
13	chr3:56656200-56683000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:56657400-56683800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:56657600-56675800	Strong transcription	Fetal Muscle Leg	muscle
16	chr3:56657800-56678000	Weak transcription	Fetal Brain Male	brain
17	chr3:56659000-56673000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:56659400-56676200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:56660600-56670800	Weak transcription	Fetal Brain Female	brain
20	chr3:56661400-56710600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:56661800-56674800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:56662200-56672800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:56662400-56670800	Weak transcription	Brain Anterior Caudate	brain
24	chr3:56662400-56670800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:56662400-56672800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr3:56664000-56670800	Weak transcription	NHDF-Ad	bronchial
27	chr3:56664000-56688000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:56664000-56694800	Weak transcription	Stomach Mucosa	stomach
29	chr3:56664800-56687400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr3:56664800-56711000	Strong transcription	Dnd41	blood
31	chr3:56665000-56671200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:56665000-56687800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:56665000-56690400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:56665000-56707800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:56665200-56671600	Strong transcription	Osteobl	bone
36	chr3:56665200-56686600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:56665200-56691800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:56665200-56698800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr3:56665200-56707200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:56665400-56675200	Weak transcription	Pancreas	Pancrea
41	chr3:56665400-56683200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:56665400-56687000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:56665600-56676200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:56665800-56671600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr3:56665800-56687400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:56665800-56687400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr3:56666000-56669200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr3:56666000-56669400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr3:56666000-56669400	Strong transcription	Liver	Liver
50	chr3:56666000-56675800	Strong transcription	Primary T cells from cord blood	blood

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