Variant report

Variant	rs57234044
Chromosome Location	chr17:38273561-38273562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38273535-38273570	HepG2	liver:	n/a	n/a
2	POLR2A	chr17:38273352-38274034	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:38217852..38219916-chr17:38273000..38274584,2	MCF-7	breast:
2	chr17:38267838..38274115-chr17:38331817..38337587,12	MCF-7	breast:

Variant related genes	Relation type
MSL1	TF binding region
ENSG00000126351	Chromatin interaction
ENSG00000108352	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16965666	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35142265	0.91[ASN][1000 genomes]
rs7211770	0.88[ASN][1000 genomes]
rs9911690	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv528369	chr17:38256693-38289003	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38270000-38273600	Enhancers	Fetal Thymus	thymus
2	chr17:38270000-38274400	Weak transcription	Small Intestine	intestine
3	chr17:38270000-38276600	Weak transcription	Right Atrium	heart
4	chr17:38270200-38276400	Weak transcription	Colonic Mucosa	Colon
5	chr17:38270200-38277000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr17:38270200-38277200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:38270400-38273800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:38270400-38274000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr17:38270400-38274000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr17:38270400-38274000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr17:38270400-38274600	Weak transcription	Primary B cells from cord blood	blood
12	chr17:38270400-38276000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:38270400-38276400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:38270400-38276400	Weak transcription	Brain Hippocampus Middle	brain
15	chr17:38270400-38276600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:38270400-38276600	Weak transcription	Spleen	Spleen
17	chr17:38270400-38276800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr17:38270400-38277000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr17:38270400-38277000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr17:38270400-38277200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr17:38270400-38277200	Weak transcription	Primary T cells from cord blood	blood
22	chr17:38270400-38277400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr17:38270600-38274000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr17:38270600-38275600	Weak transcription	Fetal Heart	heart
25	chr17:38270600-38276000	Weak transcription	Fetal Brain Female	brain
26	chr17:38270600-38276400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:38270600-38276400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:38270600-38276800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:38270800-38275800	Weak transcription	Fetal Brain Male	brain
30	chr17:38270800-38276200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr17:38270800-38276400	Weak transcription	Right Ventricle	heart
32	chr17:38271000-38273800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:38271000-38276000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:38271000-38276400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr17:38271000-38276400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr17:38271000-38276400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr17:38271000-38276400	Weak transcription	Psoas Muscle	Psoas
38	chr17:38271000-38276600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr17:38271000-38276600	Weak transcription	Dnd41	blood
40	chr17:38271000-38276600	Weak transcription	HMEC	breast
41	chr17:38271000-38276600	Weak transcription	HUVEC	blood vessel
42	chr17:38271000-38276600	Weak transcription	NHEK	skin
43	chr17:38271000-38276800	Weak transcription	GM12878-XiMat	blood
44	chr17:38271200-38276200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr17:38271200-38276400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr17:38271200-38276600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr17:38271200-38276600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr17:38271400-38274000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr17:38271400-38275800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:38271400-38276200	Weak transcription	NHDF-Ad	bronchial

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