Variant report

Variant	rs4699356
Chromosome Location	chr4:99541283-99541284
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	chr4:99540036..99541915-chr4:99662055..99663703,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10003932	0.84[CHD][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap]
rs10026666	0.84[CHD][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap]
rs10428298	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11097625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11097626	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11937119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11938081	0.80[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11941870	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11941880	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11946198	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12501391	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12504979	0.90[CHD][hapmap];0.84[ASN][1000 genomes]
rs12507537	0.92[EUR][1000 genomes]
rs12509046	0.80[CHD][hapmap]
rs12509170	0.90[CHD][hapmap];0.84[ASN][1000 genomes]
rs12512885	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2178216	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs2866015	0.91[ASW][hapmap];0.81[CEU][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.80[MKK][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3941	0.89[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4699661	0.81[CHD][hapmap]
rs6532752	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6532753	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6532754	0.91[ASW][hapmap];0.82[CEU][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6819238	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6820406	0.84[CHD][hapmap];0.88[JPT][hapmap]
rs6832517	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6846265	0.85[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.84[ASN][1000 genomes]
rs6848644	0.88[ASN][1000 genomes]
rs6852645	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7682381	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7700024	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7700032	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs883131	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs915879	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9684705	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9686007	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4699356	TSPAN5	cis	Muscle Skeletal	GTEx
rs4699356	RP11-1299A16.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99523000-99545000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:99529600-99542400	Enhancers	Brain Cingulate Gyrus	brain
3	chr4:99529600-99543200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:99531000-99544200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:99531200-99541400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr4:99532600-99545400	Weak transcription	HMEC	breast
7	chr4:99534000-99541400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:99534200-99541400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:99534400-99543200	Weak transcription	Thymus	Thymus
10	chr4:99535000-99541400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:99535000-99541600	Enhancers	Ovary	ovary
12	chr4:99535400-99544200	Weak transcription	NHEK	skin
13	chr4:99535600-99554200	Enhancers	Brain Substantia Nigra	brain
14	chr4:99536200-99545800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:99536800-99541800	Enhancers	Fetal Brain Female	brain
16	chr4:99536800-99542400	Enhancers	Brain Angular Gyrus	brain
17	chr4:99537600-99544800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:99538000-99542200	Enhancers	Fetal Brain Male	brain
19	chr4:99538200-99542600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:99538400-99542000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:99538400-99542200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:99538400-99543800	Enhancers	Brain Anterior Caudate	brain
23	chr4:99539000-99541400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:99539000-99541400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:99539000-99541400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:99539000-99546400	Weak transcription	Fetal Thymus	thymus
27	chr4:99539000-99547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:99539200-99541600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:99539200-99543400	Weak transcription	NHDF-Ad	bronchial
30	chr4:99539200-99544200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:99539200-99544200	Weak transcription	Osteobl	bone
32	chr4:99539200-99545400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr4:99539200-99546000	Weak transcription	Fetal Heart	heart
34	chr4:99539200-99546600	Weak transcription	HSMM	muscle
35	chr4:99539200-99547200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:99539200-99547200	Weak transcription	Right Atrium	heart
37	chr4:99539200-99547600	Weak transcription	Gastric	stomach
38	chr4:99539200-99547600	Weak transcription	Left Ventricle	heart
39	chr4:99539200-99547600	Weak transcription	Right Ventricle	heart
40	chr4:99539200-99547800	Weak transcription	Fetal Stomach	stomach
41	chr4:99539800-99542400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:99539800-99542400	Enhancers	Brain Germinal Matrix	brain
43	chr4:99540000-99541400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:99540000-99541400	Weak transcription	Spleen	Spleen
45	chr4:99540000-99542000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:99540000-99547400	Weak transcription	Fetal Lung	lung
47	chr4:99540400-99542600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:99540400-99543600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:99540600-99542000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:99540600-99542200	Enhancers	Primary T helper cells fromperipheralblood	blood

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