Variant report

Variant	rs10421578
Chromosome Location	chr19:36509189-36509190
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	MAFK	chr19:36509003-36509223	HepG2	liver:	n/a	chr19:36509125-36509135 chr19:36509121-36509132

No.	Distal block	Cell Line	Cell type
1	chr19:36508348..36511238-chr19:36524542..36526846,2	K562	blood:
2	chr19:36505412..36512625-chr19:36513263..36519988,12	K562	blood:
3	chr19:36506976..36509848-chr19:36525241..36526846,2	K562	blood:
4	chr19:36508763..36511142-chr19:36543426..36545712,2	K562	blood:
5	chr19:36497746..36499339-chr19:36508373..36509944,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248101	TF binding region
ALKBH6	TF binding region
ENSG00000161277	Chromatin interaction
ENSG00000105270	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10406887	1.00[YRI][hapmap]
rs10407969	1.00[MEX][hapmap];0.85[YRI][hapmap]
rs10410417	1.00[YRI][hapmap]
rs10426635	1.00[YRI][hapmap]
rs13344146	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs28625208	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7249321	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv911641	chr19:36473677-36536938	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers 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 target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10421578	RNF130	trans	lymphoblastoid	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36505600-36521000	Weak transcription	Fetal Brain Male	brain
2	chr19:36505800-36510000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:36505800-36511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr19:36505800-36513200	Weak transcription	Gastric	stomach
5	chr19:36505800-36514800	Weak transcription	NHDF-Ad	bronchial
6	chr19:36505800-36522000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:36505800-36522200	Weak transcription	Fetal Kidney	kidney
8	chr19:36505800-36522800	Weak transcription	Small Intestine	intestine
9	chr19:36506000-36509200	Weak transcription	Fetal Heart	heart
10	chr19:36506000-36513800	Weak transcription	Primary B cells from cord blood	blood
11	chr19:36506000-36513800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr19:36506000-36514000	Weak transcription	Pancreas	Pancrea
13	chr19:36506000-36514200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:36506000-36514400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr19:36506000-36522400	Weak transcription	NH-A	brain
16	chr19:36506000-36522800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr19:36506000-36523000	Weak transcription	HSMM	muscle
18	chr19:36506000-36523200	Weak transcription	Left Ventricle	heart
19	chr19:36506000-36523600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr19:36506200-36510600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:36506200-36510600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr19:36506200-36511000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:36506200-36511000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:36506200-36511600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr19:36506200-36511800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:36506200-36511800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:36506200-36512000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:36506200-36512000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr19:36506200-36512000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:36506200-36512600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:36506200-36513000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr19:36506200-36513000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:36506200-36514000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:36506200-36514000	Weak transcription	Liver	Liver
35	chr19:36506200-36514200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:36506200-36514600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr19:36506200-36514600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr19:36506200-36514800	Weak transcription	HMEC	breast
39	chr19:36506200-36517600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr19:36506200-36519400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:36506200-36519400	Strong transcription	Fetal Brain Female	brain
42	chr19:36506200-36522400	Strong transcription	Fetal Stomach	stomach
43	chr19:36506200-36522800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr19:36506200-36523000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:36506200-36523200	Weak transcription	HUVEC	blood vessel
46	chr19:36506200-36523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr19:36506200-36523400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr19:36506400-36510400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:36506400-36510400	Strong transcription	NHLF	lung
50	chr19:36506400-36510600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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