Variant report

Variant	rs17732242
Chromosome Location	chr7:127532345-127532346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127531585..127534377-chr7:127536211..127537783,2	K562	blood:
2	chr7:127525921..127528336-chr7:127531015..127533320,2	K562	blood:
3	chr7:127297952..127300246-chr7:127531655..127534465,2	K562	blood:
4	chr7:127524140..127526463-chr7:127531972..127534271,2	MCF-7	breast:
5	chr7:127531050..127533876-chr7:127535094..127537920,2	MCF-7	breast:
6	chr7:127530901..127533766-chr7:127540275..127542321,2	K562	blood:
7	chr7:127525921..127529073-chr7:127530950..127533374,6	K562	blood:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12154534	1.00[ASN][1000 genomes]
rs12533765	1.00[ASN][1000 genomes]
rs12534062	1.00[ASN][1000 genomes]
rs12537331	1.00[ASN][1000 genomes]
rs17151707	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17151739	1.00[ASN][1000 genomes]
rs17662898	1.00[ASN][1000 genomes]
rs6962635	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73232939	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238088	1.00[ASN][1000 genomes]
rs73239704	1.00[ASN][1000 genomes]
rs73239710	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17732242	HYAL4	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127500200-127535400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:127505400-127537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:127505800-127539600	Weak transcription	Small Intestine	intestine
4	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:127515400-127540600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:127516400-127540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:127524800-127538400	Weak transcription	Psoas Muscle	Psoas
8	chr7:127524800-127540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:127525200-127536400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:127526000-127535600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:127526200-127544600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:127526400-127532600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:127526400-127538000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:127526600-127535400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:127526600-127540600	Weak transcription	Fetal Brain Female	brain
16	chr7:127526600-127540600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:127526800-127535400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:127526800-127539600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:127527000-127532800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:127527200-127540400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:127527400-127532400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:127527400-127533600	Strong transcription	Primary T cells from cord blood	blood
23	chr7:127527600-127532800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr7:127527800-127532600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:127527800-127532800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr7:127527800-127532800	Strong transcription	Dnd41	blood
27	chr7:127527800-127535000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:127528000-127532400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:127528000-127533200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:127528800-127540400	Weak transcription	Colonic Mucosa	Colon
31	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:127529000-127540200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
34	chr7:127529200-127532600	Weak transcription	NHLF	lung
35	chr7:127529200-127533200	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:127529200-127535400	Weak transcription	Left Ventricle	heart
37	chr7:127529200-127537400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:127529200-127540400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:127529200-127540400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr7:127529200-127540800	Weak transcription	Spleen	Spleen
41	chr7:127529200-127544600	Weak transcription	Thymus	Thymus
42	chr7:127529200-127545600	Weak transcription	Fetal Stomach	stomach
43	chr7:127529200-127546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:127529200-127548400	Weak transcription	Right Ventricle	heart
45	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr7:127529400-127533800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:127529400-127534600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:127529400-127535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr7:127529400-127542200	Weak transcription	Fetal Heart	heart
50	chr7:127529400-127551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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