Variant report

Variant	rs59999705
Chromosome Location	chr19:51609865-51609866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51594561..51596843-chr19:51608971..51610702,2	MCF-7	breast:
2	chr19:51609324..51611853-chr19:51639280..51641755,3	K562	blood:
3	chr17:57930770..57932578-chr19:51609065..51611231,2	MCF-7	breast:
4	chr19:51603704..51606576-chr19:51607409..51611547,3	MCF-7	breast:
5	chr19:51608777..51612201-chr19:51621301..51624613,4	K562	blood:

Variant related genes	Relation type
ENSG00000267990	Chromatin interaction
ENSG00000268581	Chromatin interaction

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

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

rs_ID	r²[population]
rs1697555	1.00[AMR][1000 genomes]
rs61735163	1.00[AMR][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	esv34104	chr19:51566170-51641675	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv912292	chr19:51587643-51628529	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912293	chr19:51596136-51614461	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51593400-51610200	Weak transcription	HSMMtube	muscle
2	chr19:51597200-51610200	Weak transcription	NHDF-Ad	bronchial
3	chr19:51598000-51610800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr19:51599000-51610800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:51599200-51610800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:51600400-51610200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr19:51601400-51610200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:51602600-51610200	Strong transcription	Fetal Stomach	stomach
9	chr19:51602800-51610600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:51603000-51610600	Weak transcription	Fetal Kidney	kidney
11	chr19:51603200-51610400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:51604800-51610200	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:51604800-51610600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:51605000-51610200	Weak transcription	Stomach Mucosa	stomach
15	chr19:51606000-51610200	Weak transcription	Right Atrium	heart
16	chr19:51606200-51610400	Weak transcription	Brain Angular Gyrus	brain
17	chr19:51606400-51610200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:51606400-51610200	Weak transcription	Fetal Lung	lung
19	chr19:51606400-51610200	Weak transcription	HUVEC	blood vessel
20	chr19:51606400-51610600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:51606600-51610000	Weak transcription	K562	blood
22	chr19:51606600-51610200	Weak transcription	Brain Substantia Nigra	brain
23	chr19:51606600-51610200	Weak transcription	Fetal Thymus	thymus
24	chr19:51606600-51610200	Weak transcription	HSMM	muscle
25	chr19:51606600-51610600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:51606600-51610600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:51606600-51610600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:51606600-51610600	Weak transcription	NH-A	brain
29	chr19:51607000-51610000	Weak transcription	HepG2	liver
30	chr19:51607200-51610200	Weak transcription	Primary B cells from cord blood	blood
31	chr19:51607200-51610600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:51607400-51610200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:51607400-51610200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:51607400-51610200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr19:51607400-51610600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr19:51607400-51610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:51607600-51610200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr19:51607600-51610200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:51607600-51610200	Weak transcription	Brain Anterior Caudate	brain
40	chr19:51607600-51610200	Weak transcription	Brain Germinal Matrix	brain
41	chr19:51607600-51610200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr19:51607600-51610200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr19:51607600-51610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr19:51607600-51610600	Weak transcription	Colonic Mucosa	Colon
45	chr19:51607800-51610200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr19:51607800-51610200	Weak transcription	Left Ventricle	heart
47	chr19:51607800-51610200	Weak transcription	HMEC	breast
48	chr19:51607800-51610600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:51607800-51610600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:51607800-51610600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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