Variant report

Variant	rs186235553
Chromosome Location	chr10:52319757-52319758
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52319465..52323601-chr10:52381894..52385353,11	MCF-7	breast:
2	chr10:52177587..52179424-chr10:52317859..52320100,2	MCF-7	breast:
3	chr10:52319643..52322201-chr10:52358538..52360204,2	MCF-7	breast:
4	chr10:52318973..52324648-chr10:52334040..52339164,5	K562	blood:
5	chr10:52270150..52272703-chr10:52318825..52321110,2	MCF-7	breast:
6	chr10:52310270..52314455-chr10:52315610..52319835,4	MCF-7	breast:
7	chr10:52319647..52323316-chr10:52382184..52387388,6	K562	blood:

Variant related genes	Relation type
ENSG00000226200	Chromatin interaction
ENSG00000198964	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	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	esv3377695	chr10:52319096-52321394	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	esv3393535	chr10:52319496-52320944	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52280200-52328000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:52299600-52320600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:52300800-52322800	Weak transcription	Primary B cells from cord blood	blood
4	chr10:52301600-52327200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:52305400-52329600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr10:52306000-52321400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:52306000-52322000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr10:52306000-52331800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr10:52308000-52337200	Weak transcription	Primary T cells from cord blood	blood
10	chr10:52310400-52323800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr10:52310600-52323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr10:52310600-52327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:52311000-52323600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:52311000-52335800	Weak transcription	Esophagus	oesophagus
15	chr10:52312600-52321000	Weak transcription	NH-A	brain
16	chr10:52312800-52319800	Enhancers	NHLF	lung
17	chr10:52312800-52335800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:52312800-52335800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr10:52313000-52320600	Weak transcription	HepG2	liver
20	chr10:52313000-52322800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr10:52313200-52333200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr10:52313600-52337400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr10:52313800-52320800	Weak transcription	Fetal Kidney	kidney
24	chr10:52315000-52322800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:52315000-52329600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr10:52315200-52320800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr10:52315200-52323600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:52315200-52337400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr10:52315400-52322000	Weak transcription	Fetal Thymus	thymus
30	chr10:52315600-52320800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:52315600-52323800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr10:52315600-52336000	Weak transcription	GM12878-XiMat	blood
33	chr10:52315800-52320800	Weak transcription	HSMMtube	muscle
34	chr10:52316000-52320400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr10:52316000-52321000	Weak transcription	HSMM	muscle
36	chr10:52316000-52323600	Weak transcription	Fetal Intestine Small	intestine
37	chr10:52316200-52320800	Weak transcription	Stomach Mucosa	stomach
38	chr10:52316200-52321000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr10:52316400-52320600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr10:52316400-52322000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:52316400-52322200	Weak transcription	Placenta	Placenta
42	chr10:52316400-52322800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr10:52316400-52323600	Weak transcription	Gastric	stomach
44	chr10:52316400-52325200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr10:52316400-52327200	Weak transcription	Fetal Muscle Leg	muscle
46	chr10:52316400-52331800	Weak transcription	Lung	lung
47	chr10:52316600-52320600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr10:52316800-52320800	Weak transcription	Right Ventricle	heart
49	chr10:52316800-52321000	Weak transcription	Psoas Muscle	Psoas
50	chr10:52316800-52332000	Weak transcription	Aorta	Aorta

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