Variant report

Variant	rs7774485
Chromosome Location	chr6:30568448-30568449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30455930..30458295-chr6:30567471..30569089,2	K562	blood:
2	chr6:30460538..30462346-chr6:30567342..30569437,2	K562	blood:
3	chr6:30521105..30523909-chr6:30568443..30570140,2	MCF-7	breast:
4	chr6:30566253..30568744-chr6:30622206..30624656,2	K562	blood:
5	chr6:30568351..30570989-chr6:30611890..30614975,3	K562	blood:

Variant related genes	Relation type
ENSG00000204590	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000204592	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11751264	1.00[EUR][1000 genomes]
rs11752619	1.00[EUR][1000 genomes]
rs11754451	1.00[EUR][1000 genomes]
rs11755019	1.00[EUR][1000 genomes]
rs11755197	1.00[EUR][1000 genomes]
rs11756784	1.00[EUR][1000 genomes]
rs11757794	1.00[EUR][1000 genomes]
rs11759009	1.00[EUR][1000 genomes]
rs11759186	1.00[EUR][1000 genomes]
rs17875374	1.00[ASN][1000 genomes]
rs34127083	1.00[EUR][1000 genomes]
rs34921364	1.00[EUR][1000 genomes]
rs3757335	1.00[ASN][1000 genomes]
rs4148249	1.00[ASN][1000 genomes]
rs73432769	0.90[ASN][1000 genomes]
rs7757145	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases
8	nsv5244	chr6:30545111-30589803	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	772 gene(s)	inside rSNPs	diseases
9	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7774485	DDR1	cis	lymphoblastoid	seeQTL
rs7774485	ZNRD1	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30540200-30582200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30540200-30582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:30542200-30581800	Weak transcription	Right Atrium	heart
4	chr6:30554800-30569000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:30558800-30569200	Weak transcription	Fetal Brain Male	brain
6	chr6:30559000-30568600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:30559000-30568800	Weak transcription	Small Intestine	intestine
8	chr6:30559200-30568800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:30559200-30568800	Weak transcription	Stomach Mucosa	stomach
10	chr6:30559200-30569000	Weak transcription	Brain Angular Gyrus	brain
11	chr6:30559200-30569000	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:30560400-30569400	Weak transcription	Psoas Muscle	Psoas
13	chr6:30560800-30569400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:30562600-30568600	Weak transcription	HepG2	liver
15	chr6:30562600-30569200	Weak transcription	Fetal Kidney	kidney
16	chr6:30562800-30568600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr6:30562800-30568800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:30562800-30569000	Weak transcription	Ovary	ovary
19	chr6:30562800-30569200	Weak transcription	Aorta	Aorta
20	chr6:30564200-30577400	Strong transcription	Fetal Intestine Small	intestine
21	chr6:30565000-30569800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:30565400-30568600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:30565600-30570400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:30566400-30581000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:30566600-30578000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:30566600-30579600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:30566800-30577600	Strong transcription	Osteobl	bone
28	chr6:30566800-30578400	Strong transcription	Thymus	Thymus
29	chr6:30567000-30573800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:30567000-30577800	Strong transcription	NH-A	brain
31	chr6:30567000-30579400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:30567000-30579600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr6:30567200-30579600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:30567400-30569200	Strong transcription	Primary T cells from cord blood	blood
35	chr6:30567400-30569200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:30567400-30570600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:30567400-30577800	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr6:30567400-30578000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:30567400-30578000	Strong transcription	HSMM	muscle
40	chr6:30567400-30578200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:30567400-30578200	Strong transcription	Fetal Muscle Leg	muscle
42	chr6:30567400-30579000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:30567400-30579200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:30567400-30579800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:30567400-30580000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:30567400-30580200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:30567400-30580400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:30567600-30574000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr6:30567600-30577000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr6:30567600-30578400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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