Variant report

Variant	rs5001330
Chromosome Location	chr8:103554157-103554158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103552930..103556301-chr8:103557588..103560805,4	K562	blood:
2	chr8:103553403..103555856-chr8:103556123..103559694,3	MCF-7	breast:
3	chr8:103552849..103555582-chr8:103602690..103604723,2	K562	blood:
4	chr8:103554141..103557178-chr8:103560582..103564192,4	K562	blood:
5	chr8:103423499..103426368-chr8:103552580..103554247,2	K562	blood:
6	chr8:103549075..103551753-chr8:103552917..103555861,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155087	Chromatin interaction
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1000671	0.94[EUR][1000 genomes]
rs10505033	0.91[CEU][hapmap]
rs16869483	0.92[CEU][hapmap]
rs16869517	0.92[CEU][hapmap];0.84[AMR][1000 genomes]
rs17185729	0.91[EUR][1000 genomes]
rs17766593	0.92[EUR][1000 genomes]
rs2511758	0.90[EUR][1000 genomes]
rs55690838	0.89[EUR][1000 genomes]
rs56394526	0.89[EUR][1000 genomes]
rs72683035	0.91[EUR][1000 genomes]
rs72683040	0.92[EUR][1000 genomes]
rs72683041	0.92[EUR][1000 genomes]
rs72683053	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72683057	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1024876	chr8:103512785-103576658	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3419415	chr8:103525141-103575507	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5001330	TM7SF4	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103547000-103556800	Weak transcription	Spleen	Spleen
2	chr8:103550400-103554800	Weak transcription	HSMM	muscle
3	chr8:103550800-103589000	Weak transcription	Right Atrium	heart
4	chr8:103551000-103556000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:103551200-103556400	Weak transcription	Brain Germinal Matrix	brain
6	chr8:103551600-103556600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:103552000-103556400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:103553000-103554600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:103553200-103554200	Enhancers	A549	lung
10	chr8:103553200-103554400	Enhancers	Fetal Intestine Small	intestine
11	chr8:103553200-103554400	Enhancers	Gastric	stomach
12	chr8:103553200-103554400	Enhancers	GM12878-XiMat	blood
13	chr8:103553200-103554800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:103553200-103555000	Enhancers	Hela-S3	cervix
15	chr8:103553400-103554200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:103553400-103554400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:103553400-103554400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:103553400-103554600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:103553400-103554600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:103553400-103554600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr8:103553600-103554200	Enhancers	Fetal Heart	heart
22	chr8:103553600-103554400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr8:103553600-103554400	Flanking Active TSS	K562	blood
24	chr8:103553600-103554400	Enhancers	Osteobl	bone
25	chr8:103553600-103558800	Weak transcription	Psoas Muscle	Psoas
26	chr8:103553800-103554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:103553800-103554200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:103553800-103554200	Enhancers	NH-A	brain
29	chr8:103553800-103554400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:103553800-103554600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr8:103553800-103555800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:103553800-103558600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:103554000-103554200	Enhancers	Fetal Brain Male	brain
34	chr8:103554000-103554200	Enhancers	HSMMtube	muscle
35	chr8:103554000-103554400	Enhancers	Fetal Thymus	thymus
36	chr8:103554000-103555600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:103554000-103555800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:103554000-103556000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr8:103554000-103569000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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