Variant report

Variant	rs242247
Chromosome Location	chr17:17254155-17254156
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17138950..17141671-chr17:17252192..17255713,3	K562	blood:
2	chr17:17254086..17257181-chr17:17257878..17260264,3	K562	blood:
3	chr17:17253058..17255962-chr17:17272690..17275335,2	MCF-7	breast:
4	chr17:17254130..17257919-chr17:17269049..17271007,3	K562	blood:
5	chr17:17205478..17209647-chr17:17253825..17258585,6	K562	blood:
6	chr17:17138897..17142013-chr17:17252192..17257432,6	K562	blood:
7	chr17:17247464..17250308-chr17:17252283..17256220,4	K562	blood:

Variant related genes	Relation type
ENSG00000205309	Chromatin interaction
ENSG00000266498	Chromatin interaction
ENSG00000264187	Chromatin interaction
ENSG00000154803	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3744142	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
4	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17208600-17255400	Weak transcription	Brain Substantia Nigra	brain
2	chr17:17219000-17255400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr17:17228200-17258200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:17228600-17255000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:17229200-17255200	Weak transcription	Brain Hippocampus Middle	brain
6	chr17:17229800-17258400	Weak transcription	Thymus	Thymus
7	chr17:17230200-17258200	Weak transcription	Brain Anterior Caudate	brain
8	chr17:17244600-17255200	Weak transcription	Esophagus	oesophagus
9	chr17:17246400-17255400	Weak transcription	Ovary	ovary
10	chr17:17246400-17257800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr17:17246400-17258000	Weak transcription	Dnd41	blood
12	chr17:17246400-17258600	Weak transcription	Brain Angular Gyrus	brain
13	chr17:17246600-17255200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr17:17247800-17255400	Weak transcription	Right Atrium	heart
15	chr17:17248000-17258400	Weak transcription	Gastric	stomach
16	chr17:17248400-17254800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:17248600-17258400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr17:17249000-17256000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:17250600-17254600	Weak transcription	Brain Germinal Matrix	brain
20	chr17:17250800-17265400	Weak transcription	Fetal Brain Female	brain
21	chr17:17251200-17255000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr17:17251200-17258000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:17251200-17258600	Weak transcription	Fetal Intestine Small	intestine
24	chr17:17251400-17255400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:17251800-17256600	Enhancers	HSMMtube	muscle
26	chr17:17252000-17255400	Enhancers	HSMM	muscle
27	chr17:17252200-17254600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:17252200-17255800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr17:17252200-17256600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr17:17252400-17255400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr17:17252400-17256200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:17252400-17256800	Enhancers	Fetal Muscle Leg	muscle
33	chr17:17252400-17258000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:17252600-17254200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:17252600-17256400	Enhancers	Fetal Heart	heart
36	chr17:17252800-17254400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr17:17252800-17254400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:17252800-17255000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:17253000-17254200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr17:17253000-17254600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr17:17253000-17254800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr17:17253000-17255000	Weak transcription	Adipose Nuclei	Adipose
43	chr17:17253200-17257000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:17253400-17254200	Enhancers	Hela-S3	cervix
45	chr17:17253600-17254400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr17:17253600-17254400	Enhancers	NHDF-Ad	bronchial
47	chr17:17253800-17254200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:17253800-17254200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr17:17253800-17254200	Enhancers	A549	lung
50	chr17:17253800-17254200	Enhancers	NH-A	brain

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