Variant report

Variant	rs11097625
Chromosome Location	chr4:99541168-99541169
allele	C/T
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: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10428298	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11097626	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938081	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11941870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11946198	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501391	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12504979	0.84[ASN][1000 genomes]
rs12507537	0.92[EUR][1000 genomes]
rs12509170	0.84[ASN][1000 genomes]
rs12512885	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178216	0.92[ASN][1000 genomes]
rs2866015	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3941	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4699356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6532752	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532753	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6532754	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6819238	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6832517	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6846265	0.84[ASN][1000 genomes]
rs6848644	0.87[ASN][1000 genomes]
rs6852645	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7682381	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7700024	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7700032	0.90[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	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9686007	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11097625	TSPAN5	cis	Muscle Skeletal	GTEx
rs11097625	RP11-1299A16.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:70 , 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	chr4:99534400-99541200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:99534400-99543200	Weak transcription	Thymus	Thymus
11	chr4:99535000-99541400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:99535000-99541600	Enhancers	Ovary	ovary
13	chr4:99535200-99541200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:99535400-99544200	Weak transcription	NHEK	skin
15	chr4:99535600-99541200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:99535600-99554200	Enhancers	Brain Substantia Nigra	brain
17	chr4:99536200-99545800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:99536800-99541800	Enhancers	Fetal Brain Female	brain
19	chr4:99536800-99542400	Enhancers	Brain Angular Gyrus	brain
20	chr4:99537600-99544800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:99538000-99542200	Enhancers	Fetal Brain Male	brain
22	chr4:99538200-99541200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr4:99538200-99542600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:99538400-99542000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:99538400-99542200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:99538400-99543800	Enhancers	Brain Anterior Caudate	brain
27	chr4:99539000-99541200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:99539000-99541200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:99539000-99541400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr4:99539000-99541400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:99539000-99541400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:99539000-99546400	Weak transcription	Fetal Thymus	thymus
33	chr4:99539000-99547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:99539200-99541200	Weak transcription	NH-A	brain
35	chr4:99539200-99541600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:99539200-99543400	Weak transcription	NHDF-Ad	bronchial
37	chr4:99539200-99544200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:99539200-99544200	Weak transcription	Osteobl	bone
39	chr4:99539200-99545400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:99539200-99546000	Weak transcription	Fetal Heart	heart
41	chr4:99539200-99546600	Weak transcription	HSMM	muscle
42	chr4:99539200-99547200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:99539200-99547200	Weak transcription	Right Atrium	heart
44	chr4:99539200-99547600	Weak transcription	Gastric	stomach
45	chr4:99539200-99547600	Weak transcription	Left Ventricle	heart
46	chr4:99539200-99547600	Weak transcription	Right Ventricle	heart
47	chr4:99539200-99547800	Weak transcription	Fetal Stomach	stomach
48	chr4:99539800-99542400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:99539800-99542400	Enhancers	Brain Germinal Matrix	brain
50	chr4:99540000-99541400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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