Variant report

Variant	rs1242510
Chromosome Location	chr17:17371405-17371406
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	chr17:17367351..17374142-chr17:17375377..17382594,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141026	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1242491	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1242493	0.82[EUR][1000 genomes]
rs1242503	0.83[EUR][1000 genomes]
rs1242505	0.83[EUR][1000 genomes]
rs1242511	0.83[EUR][1000 genomes]
rs1263507	0.83[EUR][1000 genomes]
rs2694926	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065710	chr17:17328111-17391443	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
3	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv907730	chr17:17358004-17415217	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv827909	chr17:17358945-17394331	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17363600-17380000	Weak transcription	Right Atrium	heart
2	chr17:17363800-17380200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:17369400-17372600	Enhancers	Brain Germinal Matrix	brain
4	chr17:17369800-17372000	Enhancers	Brain Hippocampus Middle	brain
5	chr17:17369800-17372000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr17:17369800-17372400	Enhancers	Fetal Brain Male	brain
7	chr17:17369800-17374400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr17:17370000-17371600	Enhancers	Hela-S3	cervix
9	chr17:17370000-17372200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:17370000-17372800	Enhancers	Fetal Muscle Leg	muscle
11	chr17:17370200-17372000	Enhancers	Fetal Intestine Large	intestine
12	chr17:17370400-17371600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:17370400-17371800	Enhancers	Fetal Brain Female	brain
14	chr17:17370400-17371800	Enhancers	Spleen	Spleen
15	chr17:17370400-17373200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr17:17370800-17372000	Bivalent Enhancer	HepG2	liver
17	chr17:17370800-17372200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr17:17370800-17375400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:17371000-17371600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr17:17371000-17372000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:17371000-17372200	Enhancers	Pancreas	Pancrea
22	chr17:17371000-17372200	Enhancers	Psoas Muscle	Psoas
23	chr17:17371000-17372200	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr17:17371200-17371600	Enhancers	Duodenum Mucosa	Duodenum
25	chr17:17371200-17372200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr17:17371200-17372200	Enhancers	NHDF-Ad	bronchial
27	chr17:17371200-17372600	Enhancers	Fetal Muscle Trunk	muscle
28	chr17:17371200-17372800	Enhancers	Adipose Nuclei	Adipose
29	chr17:17371200-17375600	Weak transcription	Brain Anterior Caudate	brain
30	chr17:17371400-17371800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:17371400-17374200	Weak transcription	Brain Substantia Nigra	brain
32	chr17:17371400-17375400	Weak transcription	Brain Cingulate Gyrus	brain

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