Variant report

Variant	rs59931887
Chromosome Location	chr10:50605365-50605366
allele	C/T
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	REST	chr10:50604966-50606994	HL-60	blood:	n/a	chr10:50606170-50606190 chr10:50606177-50606190 chr10:50606176-50606185 chr10:50606170-50606190 chr10:50606171-50606189 chr10:50606170-50606184 chr10:50606181-50606190 chr10:50606216-50606226 chr10:50606170-50606190 chr10:50605551-50605564
2	REST	chr10:50605294-50606642	PFSK-1	brain:	n/a	chr10:50606170-50606190 chr10:50606177-50606190 chr10:50606176-50606185 chr10:50606170-50606190 chr10:50606171-50606189 chr10:50606170-50606184 chr10:50606181-50606190 chr10:50606216-50606226 chr10:50606170-50606190 chr10:50605551-50605564
3	YY1	chr10:50605323-50605625	H1-hESC	embryonic stem cell:	n/a	chr10:50605611-50605625 chr10:50605511-50605533
4	SUZ12	chr10:50605209-50605701	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr10:50605280-50606748	H1-hESC	embryonic stem cell:	n/a	chr10:50606177-50606190 chr10:50605551-50605564 chr10:50606176-50606186 chr10:50606171-50606185
6	REST	chr10:50605345-50606705	PFSK-1	brain:	n/a	chr10:50606170-50606190 chr10:50606177-50606190 chr10:50606176-50606185 chr10:50606170-50606190 chr10:50606171-50606189 chr10:50606170-50606184 chr10:50606181-50606190 chr10:50606216-50606226 chr10:50606170-50606190 chr10:50605551-50605564
7	EP300	chr10:50603041-50605982	SK-N-SH	brain:	n/a	chr10:50603639-50603655 chr10:50603985-50603994 chr10:50605960-50605976 chr10:50603939-50603955 chr10:50603571-50603581 chr10:50604287-50604297
8	REST	chr10:50605229-50605649	SK-N-SH	brain:	n/a	chr10:50605551-50605564
9	POLR2A	chr10:50604037-50607119	H1-neurons	neurons:	n/a	n/a
10	REST	chr10:50605074-50605490	K562	blood:	n/a	n/a
11	REST	chr10:50605243-50606778	U87	brain:	n/a	chr10:50606170-50606190 chr10:50606177-50606190 chr10:50606176-50606185 chr10:50606170-50606190 chr10:50606171-50606189 chr10:50606170-50606184 chr10:50606181-50606190 chr10:50606216-50606226 chr10:50606170-50606190 chr10:50605551-50605564
12	REST	chr10:50605299-50606947	ECC-1	luminal epithelium:	n/a	chr10:50606170-50606190 chr10:50606177-50606190 chr10:50606176-50606185 chr10:50606170-50606190 chr10:50606171-50606189 chr10:50606170-50606184 chr10:50606181-50606190 chr10:50606216-50606226 chr10:50606170-50606190 chr10:50605551-50605564
13	HMGN3	chr10:50605312-50605389	K562	blood:	n/a	n/a
14	REST	chr10:50605268-50606822	PFSK-1	brain:	n/a	chr10:50606170-50606190 chr10:50606177-50606190 chr10:50606176-50606185 chr10:50606170-50606190 chr10:50606171-50606189 chr10:50606170-50606184 chr10:50606181-50606190 chr10:50606216-50606226 chr10:50606170-50606190 chr10:50605551-50605564
15	CTBP2	chr10:50605205-50606680	H1-hESC	embryonic stem cell:	n/a	n/a
16	REST	chr10:50605343-50606743	HL-60	blood:	n/a	chr10:50606170-50606190 chr10:50606177-50606190 chr10:50606176-50606185 chr10:50606170-50606190 chr10:50606171-50606189 chr10:50606170-50606184 chr10:50606181-50606190 chr10:50606216-50606226 chr10:50606170-50606190 chr10:50605551-50605564
17	REST	chr10:50605243-50606802	U87	brain:	n/a	chr10:50606170-50606190 chr10:50606177-50606190 chr10:50606176-50606185 chr10:50606170-50606190 chr10:50606171-50606189 chr10:50606170-50606184 chr10:50606181-50606190 chr10:50606216-50606226 chr10:50606170-50606190 chr10:50605551-50605564
18	MXI1	chr10:50602745-50607042	SK-N-SH	brain:	n/a	chr10:50602885-50602894 chr10:50604253-50604262 chr10:50604255-50604264
19	SUZ12	chr10:50602816-50607506	NT2-D1	testis:	n/a	n/a
20	REST	chr10:50605323-50605593	H1-hESC	embryonic stem cell:	n/a	chr10:50605551-50605564
21	POLR2A	chr10:50604100-50607124	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:50604685..50607956-chr10:50611021..50613887,3	K562	blood:
2	chr10:50602711..50604649-chr10:50605043..50607246,2	K562	blood:
3	chr10:50575926..50578521-chr10:50603618..50605883,2	K562	blood:
4	chr10:50599562..50602600-chr10:50603375..50606319,3	MCF-7	breast:
5	chr10:50582554..50584087-chr10:50604119..50606052,2	K562	blood:
6	chr10:50598458..50600419-chr10:50603443..50605608,2	MCF-7	breast:
7	chr10:50603990..50606695-chr10:50609277..50610871,2	K562	blood:
8	chr10:50599197..50602326-chr10:50603771..50607673,3	K562	blood:

Variant related genes	Relation type
DRGX	TF binding region
ENSG00000165606	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61598570	1.00[EUR][1000 genomes]
rs73312002	1.00[EUR][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895377	chr10:50588990-50678212	ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50602800-50606600	Enhancers	Pancreas	Pancrea
2	chr10:50602800-50607200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:50603200-50605400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr10:50603200-50606800	Bivalent Enhancer	Fetal Brain Male	brain
5	chr10:50603400-50607000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr10:50603600-50605400	Bivalent Enhancer	Adipose Nuclei	Adipose
7	chr10:50603600-50605400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
8	chr10:50603800-50606000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr10:50604600-50606600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr10:50604800-50605800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:50605000-50605400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
12	chr10:50605000-50605600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr10:50605000-50605600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
14	chr10:50605000-50606000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr10:50605000-50606200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:50605000-50606200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
17	chr10:50605000-50606400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:50605000-50606800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr10:50605000-50607400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr10:50605200-50605400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:50605200-50605400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:50605200-50605400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:50605200-50605400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:50605200-50605400	Bivalent Enhancer	Brain Angular Gyrus	brain
25	chr10:50605200-50605400	Bivalent Enhancer	Brain Hippocampus Middle	brain
26	chr10:50605200-50605400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
27	chr10:50605200-50605400	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr10:50605200-50605600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:50605200-50605600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
30	chr10:50605200-50605800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:50605200-50605800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
32	chr10:50605200-50605800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
33	chr10:50605200-50605800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr10:50605200-50605800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr10:50605200-50606000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:50605200-50606000	Bivalent Enhancer	Brain Substantia Nigra	brain
37	chr10:50605200-50606200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:50605200-50606200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
39	chr10:50605200-50606200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr10:50605200-50606200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
41	chr10:50605200-50606200	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr10:50605200-50606200	Bivalent Enhancer	Psoas Muscle	Psoas
43	chr10:50605200-50606200	Enhancers	Right Atrium	heart
44	chr10:50605200-50606200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr10:50605200-50606400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr10:50605200-50606400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr10:50605200-50606400	Bivalent Enhancer	Placenta	Placenta
48	chr10:50605200-50606400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr10:50605200-50606600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:50605200-50606600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell

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