Variant report

Variant	rs17141647
Chromosome Location	chr7:69924908-69924909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69923675..69926139-chr7:69934403..69936695,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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]
rs17141666	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17141669	0.87[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	1.00[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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69899000-69930200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:69922000-69925200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:69922000-69963800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:69922600-69925000	Enhancers	Fetal Intestine Large	intestine
5	chr7:69922600-69925200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:69922800-69925000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:69922800-69926600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:69923000-69925000	Enhancers	Fetal Intestine Small	intestine
9	chr7:69923200-69928600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:69923200-69939800	Weak transcription	Right Ventricle	heart
11	chr7:69923400-69928000	Weak transcription	Fetal Kidney	kidney
12	chr7:69923400-69936800	Weak transcription	Fetal Brain Female	brain
13	chr7:69923600-69946600	Weak transcription	Primary B cells from cord blood	blood
14	chr7:69924000-69925000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:69924000-69925000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:69924000-69925000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:69924000-69928000	Weak transcription	Fetal Lung	lung
18	chr7:69924000-69928400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:69924000-69935400	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:69924000-69943200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:69924200-69925000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:69924200-69932000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:69924200-69938400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:69924400-69925000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:69924400-69925000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:69924600-69925000	Genic enhancers	Fetal Stomach	stomach
27	chr7:69924600-69925000	Enhancers	NHEK	skin
28	chr7:69924600-69925200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:69924600-69928400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:69924800-69925000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr7:69924800-69925200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:69924800-69925800	Enhancers	Esophagus	oesophagus
33	chr7:69924800-69928000	Weak transcription	Fetal Heart	heart
34	chr7:69924800-69935400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:69924800-69942400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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