Variant report

Variant	rs7795893
Chromosome Location	chr7:104568299-104568300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104563679..104565280-chr7:104568067..104569719,2	K562	blood:
2	chr7:104568037..104570381-chr7:104584303..104585871,2	MCF-7	breast:
3	chr7:104563318..104568443-chr7:104653143..104655572,8	K562	blood:

Variant related genes	Relation type
ENSG00000239569	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10231439	0.86[ASN][1000 genomes]
rs10245078	0.91[ASN][1000 genomes]
rs10276653	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10953459	0.94[ASN][1000 genomes]
rs11978074	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12333765	0.90[ASN][1000 genomes]
rs13237211	0.84[ASN][1000 genomes]
rs13239438	0.81[JPT][hapmap]
rs2428161	0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs35110258	0.80[ASN][1000 genomes]
rs59869531	0.89[ASN][1000 genomes]
rs6466030	0.82[ASN][1000 genomes]
rs6466034	0.84[ASN][1000 genomes]
rs6949656	0.89[ASN][1000 genomes]
rs740068	0.91[JPT][hapmap]
rs7807853	0.84[ASN][1000 genomes]
rs886145	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7795893	DNAJB9	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104558400-104571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104562600-104571800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:104563400-104569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:104563800-104570800	Weak transcription	Colonic Mucosa	Colon
5	chr7:104563800-104571800	Weak transcription	Fetal Heart	heart
6	chr7:104563800-104571800	Weak transcription	Right Atrium	heart
7	chr7:104563800-104571800	Weak transcription	Hela-S3	cervix
8	chr7:104563800-104573400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:104564000-104569000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:104564000-104569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:104564000-104570400	Weak transcription	Small Intestine	intestine
12	chr7:104564000-104571800	Weak transcription	Brain Substantia Nigra	brain
13	chr7:104564000-104571800	Weak transcription	Lung	lung
14	chr7:104564000-104572000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:104564000-104574600	Weak transcription	HSMM	muscle
16	chr7:104564200-104569200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:104564200-104570400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:104565800-104568400	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr7:104565800-104568600	Enhancers	Stomach Mucosa	stomach
20	chr7:104566200-104568400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr7:104567000-104568400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:104567000-104568400	Enhancers	HepG2	liver
23	chr7:104567200-104568400	Enhancers	Fetal Kidney	kidney
24	chr7:104567200-104568600	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:104567200-104571000	Enhancers	Fetal Intestine Large	intestine
26	chr7:104567200-104575200	Enhancers	Fetal Intestine Small	intestine
27	chr7:104567400-104568400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:104567600-104568400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:104567800-104568400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr7:104568000-104569000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:104568000-104569200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:104568000-104569400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:104568000-104571000	Enhancers	NHEK	skin
34	chr7:104568000-104571600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:104568000-104571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:104568000-104571600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:104568000-104571600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:104568000-104571600	Weak transcription	Pancreas	Pancrea
39	chr7:104568000-104573400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:104568200-104568400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:104568200-104568400	Enhancers	HMEC	breast
42	chr7:104568200-104570600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:104568200-104571400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:104568200-104571400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:104568200-104571600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:104568200-104571600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:104568200-104571600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:104568200-104571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:104568200-104571600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:104568200-104573000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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