Variant report

Variant	rs183045748
Chromosome Location	chr10:5739497-5739498
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	EP300	chr10:5739415-5739699	K562	blood:	n/a	n/a
2	RCOR1	chr10:5739450-5739763	K562	blood:	n/a	n/a
3	GATA1	chr10:5739315-5740745	PBDE	blood:	n/a	chr10:5739624-5739645 chr10:5739631-5739638
4	ZNF274	chr10:5739369-5739618	NT2-D1	testis:	n/a	n/a
5	GATA2	chr10:5739368-5739763	SH-SY5Y	brain:	n/a	chr10:5739624-5739645 chr10:5739631-5739638
6	GATA3	chr10:5739465-5739789	SH-SY5Y	brain:	n/a	chr10:5739624-5739645 chr10:5739631-5739638
7	KAP1	chr10:5739280-5739804	HEK293	kidney:	n/a	n/a
8	MAZ	chr10:5739485-5739722	K562	blood:	n/a	n/a
9	UBTF	chr10:5739433-5739550	K562	blood:	n/a	n/a
10	TCF7L2	chr10:5739478-5740365	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5724274..5728540-chr10:5734829..5741563,8	MCF-7	breast:
2	chr10:5585750..5587884-chr10:5738818..5740542,2	K562	blood:
3	chr10:5729840..5732495-chr10:5739235..5741106,2	MCF-7	breast:
4	chr10:5726410..5728417-chr10:5738015..5741917,3	MCF-7	breast:
5	chr10:5737326..5739856-chr10:5853864..5856173,2	MCF-7	breast:
6	chr10:5734758..5736346-chr10:5739333..5741720,2	MCF-7	breast:
7	chr10:5733360..5736300-chr10:5737628..5741126,5	MCF-7	breast:

Variant related genes	Relation type
FAM208B	TF binding region
ENSG00000108021	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000057608	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv1796213	chr10:5716555-5766165	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv522415	chr10:5721653-5768493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1050663	chr10:5737979-5785918	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv528504	chr10:5739054-5754611	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5728800-5746800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr10:5734800-5763400	Weak transcription	HSMM	muscle
3	chr10:5735200-5739800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr10:5735200-5743000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr10:5735200-5749000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:5735200-5750600	Weak transcription	Gastric	stomach
7	chr10:5735200-5767000	Weak transcription	Fetal Muscle Leg	muscle
8	chr10:5735400-5739600	Weak transcription	Colonic Mucosa	Colon
9	chr10:5735400-5744800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr10:5735400-5750800	Weak transcription	Spleen	Spleen
11	chr10:5735400-5761600	Weak transcription	NHEK	skin
12	chr10:5735400-5762000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:5735800-5741800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr10:5735800-5752800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:5736000-5739600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:5736200-5739600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr10:5736200-5740000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr10:5736200-5740200	Weak transcription	A549	lung
19	chr10:5736200-5742600	Weak transcription	Brain Angular Gyrus	brain
20	chr10:5736200-5751600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:5736400-5741000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:5736400-5753000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:5736600-5741600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr10:5736800-5742000	Weak transcription	Primary T cells from cord blood	blood
25	chr10:5736800-5742000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:5737000-5742000	Weak transcription	Brain Substantia Nigra	brain
27	chr10:5737000-5742600	Weak transcription	Brain Hippocampus Middle	brain
28	chr10:5737000-5743600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr10:5737400-5744200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr10:5737400-5744800	Weak transcription	Liver	Liver
31	chr10:5737600-5740200	Enhancers	HepG2	liver
32	chr10:5737600-5740800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr10:5737600-5744200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr10:5738000-5740600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr10:5738000-5740600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr10:5738200-5740200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr10:5738200-5745200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr10:5738400-5740400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr10:5738400-5741000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr10:5738400-5741400	Enhancers	K562	blood
41	chr10:5738400-5744200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr10:5738600-5740800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr10:5738600-5752400	Weak transcription	Primary B cells from cord blood	blood
44	chr10:5738600-5752800	Weak transcription	Right Atrium	heart
45	chr10:5738600-5769000	Weak transcription	Left Ventricle	heart
46	chr10:5738800-5740400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr10:5739000-5739600	Enhancers	Duodenum Mucosa	Duodenum
48	chr10:5739000-5739800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr10:5739000-5740400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr10:5739000-5740600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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