Variant report

Variant	rs4252608
Chromosome Location	chr17:37862966-37862967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37844202..37845987-chr17:37862738..37864585,2	K562	blood:
2	chr17:37862394..37865054-chr17:37882153..37884156,2	K562	blood:
3	chr17:37861008..37863729-chr17:37884662..37888113,4	MCF-7	breast:
4	chr17:37859950..37863403-chr17:37895808..37898808,3	MCF-7	breast:
5	chr17:37861753..37864572-chr17:37866139..37867731,2	MCF-7	breast:
6	chr17:37860742..37863626-chr17:37884816..37888176,3	MCF-7	breast:
7	chr17:37858020..37860192-chr17:37861876..37864299,2	K562	blood:
8	chr17:37852050..37854882-chr17:37862447..37865325,2	K562	blood:
9	chr17:37854371..37858847-chr17:37859204..37863861,12	MCF-7	breast:
10	chr17:37860257..37864274-chr17:37871854..37875164,5	MCF-7	breast:
11	chr17:37862305..37864519-chr17:37893058..37894844,2	MCF-7	breast:
12	chr17:37860636..37865251-chr17:37890921..37895460,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141741	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000265178	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34284966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4252624	1.00[EUR][1000 genomes]
rs4252639	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv528093	chr17:37814080-37866005	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1056234	chr17:37862605-37909988	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37857000-37872000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:37857600-37863400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr17:37857800-37863200	Enhancers	Left Ventricle	heart
4	chr17:37858000-37863200	Weak transcription	HUVEC	blood vessel
5	chr17:37858000-37885200	Weak transcription	Fetal Brain Male	brain
6	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
7	chr17:37858200-37863200	Weak transcription	Spleen	Spleen
8	chr17:37858200-37863200	Weak transcription	NHLF	lung
9	chr17:37858200-37863600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:37858200-37864000	Enhancers	Liver	Liver
11	chr17:37858200-37864400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:37858200-37882600	Weak transcription	NHDF-Ad	bronchial
13	chr17:37858400-37863000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr17:37858400-37863400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr17:37858400-37863400	Weak transcription	Fetal Kidney	kidney
16	chr17:37858400-37863600	Genic enhancers	Fetal Intestine Small	intestine
17	chr17:37858400-37879600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr17:37859000-37863400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:37859000-37864000	Genic enhancers	Fetal Muscle Leg	muscle
20	chr17:37859200-37863000	Enhancers	Right Ventricle	heart
21	chr17:37859400-37881000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr17:37859600-37863600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:37859800-37864800	Weak transcription	Fetal Brain Female	brain
24	chr17:37860200-37863000	Enhancers	Stomach Mucosa	stomach
25	chr17:37861000-37863000	Enhancers	Psoas Muscle	Psoas
26	chr17:37861000-37863400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:37861200-37863000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:37861200-37863200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr17:37861200-37863800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr17:37861200-37864600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr17:37861400-37863000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:37861400-37863200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:37861400-37863400	Active TSS	Rectal Smooth Muscle	rectum
34	chr17:37861400-37863400	Weak transcription	Osteobl	bone
35	chr17:37861400-37883600	Weak transcription	Brain Substantia Nigra	brain
36	chr17:37861600-37863400	Enhancers	Fetal Heart	heart
37	chr17:37861600-37864600	Weak transcription	Colon Smooth Muscle	Colon
38	chr17:37861800-37863000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:37861800-37863200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:37861800-37863200	Weak transcription	Ovary	ovary
41	chr17:37862000-37863200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:37862000-37863200	Enhancers	Brain Anterior Caudate	brain
43	chr17:37862000-37863400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr17:37862000-37865400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:37862200-37863000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr17:37862200-37863000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr17:37862200-37863000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr17:37862200-37863000	Enhancers	Brain Germinal Matrix	brain
49	chr17:37862200-37863200	Weak transcription	Lung	lung
50	chr17:37862200-37863400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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