Variant report

Variant	rs10416500
Chromosome Location	chr19:45586498-45586499
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45580763..45587822-chr19:45593153..45598212,14	K562	blood:
2	chr19:45573362..45575930-chr19:45586482..45588790,2	MCF-7	breast:
3	chr19:45576493..45586900-chr19:45588536..45604492,49	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104866	Chromatin interaction
ENSG00000267348	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10401157	0.90[ASN][1000 genomes]
rs10401823	0.92[ASN][1000 genomes]
rs10420562	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10425074	0.87[ASN][1000 genomes]
rs1048699	0.90[ASN][1000 genomes]
rs1114831	0.90[ASN][1000 genomes]
rs1114832	0.90[ASN][1000 genomes]
rs12459074	0.87[ASN][1000 genomes]
rs12462040	0.90[ASN][1000 genomes]
rs2004357	0.90[ASN][1000 genomes]
rs2041262	0.85[ASN][1000 genomes]
rs28469095	0.90[ASN][1000 genomes]
rs28620490	0.90[ASN][1000 genomes]
rs34545713	0.90[ASN][1000 genomes]
rs3925162	0.87[ASN][1000 genomes]
rs57565080	0.83[ASN][1000 genomes]
rs7248421	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3449420	chr19:45523560-45626884	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45583600-45593800	Weak transcription	Fetal Kidney	kidney
2	chr19:45583600-45594400	Weak transcription	Aorta	Aorta
3	chr19:45583600-45594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:45583600-45595200	Weak transcription	Small Intestine	intestine
5	chr19:45583800-45593400	Weak transcription	Pancreas	Pancrea
6	chr19:45583800-45593600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:45583800-45594200	Weak transcription	Psoas Muscle	Psoas
8	chr19:45583800-45594400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:45584000-45594400	Weak transcription	Hela-S3	cervix
10	chr19:45584200-45594200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:45584200-45594200	Weak transcription	NH-A	brain
12	chr19:45584400-45588400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:45584400-45589800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr19:45584400-45590000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:45584400-45590600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:45584400-45590600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:45584400-45590600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr19:45584400-45590600	Weak transcription	Fetal Brain Male	brain
19	chr19:45584400-45591400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:45584400-45593000	Strong transcription	Fetal Intestine Small	intestine
21	chr19:45584400-45593200	Weak transcription	Colonic Mucosa	Colon
22	chr19:45584400-45593600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:45584400-45593800	Weak transcription	Fetal Heart	heart
24	chr19:45584400-45593800	Strong transcription	Fetal Muscle Leg	muscle
25	chr19:45584400-45593800	Strong transcription	Fetal Stomach	stomach
26	chr19:45584400-45594000	Weak transcription	Stomach Mucosa	stomach
27	chr19:45584400-45594200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:45584600-45586800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:45584600-45592400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:45584800-45587000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr19:45584800-45587000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr19:45584800-45587000	Strong transcription	Primary T cells from cord blood	blood
33	chr19:45584800-45593800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr19:45584800-45594000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr19:45585000-45586800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:45585000-45586800	Strong transcription	Fetal Intestine Large	intestine
37	chr19:45585000-45587000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr19:45585200-45586800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:45585200-45586800	Strong transcription	NHEK	skin
40	chr19:45585200-45587000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr19:45585200-45587000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:45585400-45586600	Strong transcription	HepG2	liver
43	chr19:45585600-45593200	Weak transcription	Ovary	ovary
44	chr19:45585600-45594200	Weak transcription	Primary B cells from cord blood	blood
45	chr19:45585800-45587800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr19:45585800-45588200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:45585800-45588200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:45585800-45588200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr19:45585800-45588400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr19:45585800-45588400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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