Variant report

Variant	rs8003961
Chromosome Location	chr14:55651553-55651554
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	chr14:55648437..55651811-chr14:55651962..55655981,4	K562	blood:
2	chr14:55645788..55648762-chr14:55649731..55651963,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10133915	0.92[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs10134838	0.87[JPT][hapmap]
rs10134983	0.89[EUR][1000 genomes]
rs10136880	0.92[CHB][hapmap]
rs10138259	0.81[JPT][hapmap]
rs10138286	0.81[JPT][hapmap]
rs10138395	0.88[JPT][hapmap]
rs10140881	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10141323	0.83[ASN][1000 genomes]
rs10144326	0.89[EUR][1000 genomes]
rs10498473	0.88[JPT][hapmap]
rs10498475	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs11125	0.87[EUR][1000 genomes]
rs11844443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845848	0.89[EUR][1000 genomes]
rs13379052	0.81[JPT][hapmap]
rs13379158	0.89[EUR][1000 genomes]
rs17128417	0.88[JPT][hapmap]
rs17671923	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs17672376	0.89[CEU][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs17672950	0.89[CEU][hapmap];0.91[TSI][hapmap]
rs17673930	0.89[CEU][hapmap];0.91[TSI][hapmap]
rs17740413	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs17741681	0.88[CEU][hapmap]
rs17741825	0.89[CEU][hapmap]
rs2094103	0.89[EUR][1000 genomes]
rs2274271	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2296490	0.91[ASN][1000 genomes]
rs2340932	0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs2340935	0.86[ASN][1000 genomes]
rs28379289	0.81[ASN][1000 genomes]
rs28405981	0.83[ASN][1000 genomes]
rs28547246	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28676392	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2879891	0.86[ASN][1000 genomes]
rs3742567	0.81[JPT][hapmap]
rs58737648	0.81[EUR][1000 genomes]
rs6573008	0.93[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650507	0.98[ASN][1000 genomes]
rs7141706	0.89[CEU][hapmap]
rs7151339	0.91[ASN][1000 genomes]
rs7157520	0.80[ASN][1000 genomes]
rs7157768	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs7159490	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160411	0.89[CEU][hapmap]
rs73271796	0.98[ASN][1000 genomes]
rs73273623	0.98[ASN][1000 genomes]
rs8009244	0.82[EUR][1000 genomes]
rs8009660	0.92[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs8010993	0.81[EUR][1000 genomes]
rs8012105	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012397	0.89[CEU][hapmap]
rs8013528	0.81[CEU][hapmap]
rs8017256	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021306	1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs9323280	0.80[CEU][hapmap];0.81[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	nsv1035158	chr14:55638386-55684228	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8003961	MAPK1IP1L	cis	cerebellum	SCAN
rs8003961	FBXO34	cis	cerebellum	SCAN
rs8003961	L2HGDH	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55598600-55656600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:55605200-55656000	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:55605400-55657000	Weak transcription	Fetal Kidney	kidney
4	chr14:55606600-55656000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:55607000-55656000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:55607200-55652200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:55607600-55651800	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr14:55607600-55655200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:55610600-55651600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:55610600-55655400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:55610600-55655600	Strong transcription	Dnd41	blood
12	chr14:55610800-55656000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:55611000-55656000	Weak transcription	Fetal Heart	heart
14	chr14:55611600-55656600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:55613400-55657800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:55623600-55657000	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:55629200-55655600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:55629400-55652000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr14:55630200-55656600	Weak transcription	Fetal Brain Female	brain
20	chr14:55632400-55656200	Weak transcription	HSMM	muscle
21	chr14:55634200-55655400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:55634400-55656200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:55637200-55655600	Strong transcription	Fetal Thymus	thymus
24	chr14:55638200-55656200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:55638600-55657200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr14:55639800-55654200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:55643800-55652000	Strong transcription	A549	lung
28	chr14:55644800-55652000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:55645200-55651800	Strong transcription	Hela-S3	cervix
30	chr14:55645800-55656800	Weak transcription	Fetal Intestine Large	intestine
31	chr14:55645800-55657400	Weak transcription	Fetal Intestine Small	intestine
32	chr14:55646800-55657200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr14:55647400-55656000	Weak transcription	NH-A	brain
34	chr14:55647600-55655800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr14:55647800-55653200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:55647800-55653400	Weak transcription	Thymus	Thymus
37	chr14:55647800-55656000	Weak transcription	HMEC	breast
38	chr14:55647800-55656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:55648200-55653200	Weak transcription	K562	blood
40	chr14:55648400-55651800	Strong transcription	NHDF-Ad	bronchial
41	chr14:55648400-55654800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:55648400-55656000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:55648400-55656200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:55648400-55656200	Weak transcription	NHLF	lung
45	chr14:55648400-55656600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:55648400-55656800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr14:55648800-55656200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:55649000-55656000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr14:55649000-55656000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:55649000-55656200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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