Variant report

Variant	rs17141666
Chromosome Location	chr7:69928491-69928492
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69926473..69928841-chr7:69935166..69939263,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17141604	1.00[EUR][1000 genomes]
rs17141610	1.00[EUR][1000 genomes]
rs17141623	1.00[EUR][1000 genomes]
rs17141633	1.00[EUR][1000 genomes]
rs17141647	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17141669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17455954	1.00[EUR][1000 genomes]
rs17489055	1.00[EUR][1000 genomes]
rs17489220	1.00[EUR][1000 genomes]
rs17489241	1.00[EUR][1000 genomes]
rs17566691	1.00[EUR][1000 genomes]
rs55836849	1.00[EUR][1000 genomes]
rs56314421	1.00[EUR][1000 genomes]
rs56345571	1.00[EUR][1000 genomes]
rs56404854	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6978484	0.86[EUR][1000 genomes]
rs73448871	1.00[EUR][1000 genomes]
rs73448873	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv888337	chr7:69707076-69952187	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1029586	chr7:69817143-69978454	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv538927	chr7:69817143-69978454	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv888338	chr7:69860713-69952187	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv888339	chr7:69879914-69952187	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv888340	chr7:69879914-69959059	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1034697	chr7:69913860-70004248	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv538928	chr7:69913860-70004248	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17141666	LBH	trans	brain	seeQTL
rs17141666	NPAS4	trans	brain	seeQTL
rs17141666	ARC	trans	brain	seeQTL
rs17141666	DUSP2	trans	brain	seeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69899000-69930200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:69922000-69963800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:69923200-69928600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:69923200-69939800	Weak transcription	Right Ventricle	heart
5	chr7:69923400-69936800	Weak transcription	Fetal Brain Female	brain
6	chr7:69923600-69946600	Weak transcription	Primary B cells from cord blood	blood
7	chr7:69924000-69935400	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:69924000-69943200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:69924200-69932000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:69924200-69938400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:69924800-69935400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:69924800-69942400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:69925000-69931800	Weak transcription	NHEK	skin
14	chr7:69925000-69936800	Weak transcription	Fetal Stomach	stomach
15	chr7:69925200-69931400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:69925800-69932800	Weak transcription	Esophagus	oesophagus
17	chr7:69928000-69928600	Enhancers	Fetal Kidney	kidney
18	chr7:69928000-69928800	Enhancers	Fetal Lung	lung
19	chr7:69928000-69929200	Enhancers	Fetal Intestine Small	intestine
20	chr7:69928000-69929200	Enhancers	Stomach Mucosa	stomach
21	chr7:69928000-69929400	Enhancers	Duodenum Mucosa	Duodenum
22	chr7:69928000-69929400	Enhancers	Pancreas	Pancrea
23	chr7:69928000-69929600	Enhancers	Fetal Intestine Large	intestine
24	chr7:69928000-69929800	Enhancers	Fetal Heart	heart
25	chr7:69928200-69929200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr7:69928200-69930200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr7:69928400-69928800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:69928400-69928800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:69928400-69928800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:69928400-69929200	Enhancers	Left Ventricle	heart
31	chr7:69928400-69929400	Enhancers	Liver	Liver
32	chr7:69928400-69929400	Enhancers	Gastric	stomach

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