Variant report

Variant	rs930102
Chromosome Location	chr19:42364395-42364396
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	POLR2A	chr19:42363565-42364661	Gliobla	brain:	n/a	n/a
2	ELF1	chr19:42363539-42364484	K562	blood:	n/a	chr19:42363675-42363687 chr19:42364346-42364358
3	BCLAF1	chr19:42363611-42364626	K562	blood:	n/a	chr19:42364552-42364565 chr19:42364336-42364349 chr19:42364549-42364562 chr19:42364309-42364318 chr19:42363901-42363910
4	USF2	chr19:42363592-42364414	GM12878	blood:	n/a	n/a
5	BACH1	chr19:42363625-42364474	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:42363501-42365411	A549	lung:	n/a	n/a
7	MYC	chr19:42364147-42364648	GM12878	blood:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492
8	TAF1	chr19:42363548-42364531	SK-N-SH	brain:	n/a	n/a
9	YY1	chr19:42363467-42364510	GM12891	blood:	n/a	n/a
10	TAF1	chr19:42363477-42365003	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF12	chr19:42363565-42364531	GM12878	blood:	n/a	chr19:42363960-42363967
12	BRCA1	chr19:42363617-42364520	HepG2	liver:	n/a	chr19:42364276-42364285 chr19:42364257-42364266
13	GABPA	chr19:42363598-42364519	HepG2	liver:	n/a	n/a
14	REST	chr19:42364133-42364429	SK-N-SH	brain:	n/a	n/a
15	ELF1	chr19:42363529-42364582	K562	blood:	n/a	chr19:42363675-42363687 chr19:42364346-42364358
16	POLR2A	chr19:42363492-42365452	GM12878	blood:	n/a	n/a
17	STAT5A	chr19:42363474-42364463	K562	blood:	n/a	chr19:42363975-42363987 chr19:42363847-42363859
18	CTBP2	chr19:42363655-42364535	H1-hESC	embryonic stem cell:	n/a	n/a
19	NR3C1	chr19:42363468-42365429	A549	lung:	n/a	chr19:42364276-42364285 chr19:42364257-42364266
20	ZBTB33	chr19:42363414-42364934	SK-N-SH	brain:	n/a	chr19:42364255-42364265 chr19:42363801-42363811 chr19:42364277-42364287 chr19:42364276-42364285 chr19:42364273-42364282
21	GATA3	chr19:42363541-42364632	SK-N-SH	brain:	n/a	chr19:42363699-42363712 chr19:42363701-42363708 chr19:42363699-42363711
22	TAF1	chr19:42363719-42364521	GM12891	blood:	n/a	n/a
23	YY1	chr19:42363489-42364441	A549	lung:	n/a	n/a
24	POLR2A	chr19:42363687-42364525	HepG2	liver:	n/a	n/a
25	TBP	chr19:42363390-42365335	K562	blood:	n/a	n/a
26	POLR2A	chr19:42363612-42364579	A549	lung:	n/a	n/a
27	TAL1	chr19:42363651-42365332	K562	blood:	n/a	n/a
28	MYC	chr19:42363483-42365160	K562	blood:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492
29	MYC	chr19:42364179-42364502	Hela-S3	cervix:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492
30	REST	chr19:42363524-42364711	HL-60	blood:	n/a	chr19:42364511-42364524 chr19:42364562-42364575
31	JUND	chr19:42363619-42364479	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr19:42363437-42365915	HUVEC	blood vessel:	n/a	n/a
33	E2F6	chr19:42363486-42364601	H1-hESC	embryonic stem cell:	n/a	chr19:42363793-42363804 chr19:42363955-42363965
34	POLR2A	chr19:42363645-42368022	GM12891	blood:	n/a	n/a
35	STAT5A	chr19:42363573-42365827	GM12878	blood:	n/a	chr19:42363975-42363987 chr19:42363847-42363859
36	MAX	chr19:42363525-42365095	K562	blood:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492
37	JUND	chr19:42363501-42364469	K562	blood:	n/a	n/a
38	PML	chr19:42363920-42364518	MCF-7	breast:	n/a	n/a
39	TAF1	chr19:42364103-42364494	SK-N-SH	brain:	n/a	n/a
40	MYC	chr19:42363661-42364769	HUVEC	blood vessel:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492
41	POLR2A	chr19:42363390-42369920	PFSK-1	brain:	n/a	n/a
42	REST	chr19:42364145-42364512	SK-N-SH	brain:	n/a	n/a
43	POU2F2	chr19:42363541-42364529	GM12891	blood:	n/a	n/a
44	SIN3AK20	chr19:42363610-42365163	K562	blood:	n/a	n/a
45	MAX	chr19:42363531-42364661	H1-hESC	embryonic stem cell:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492
46	GTF2F1	chr19:42363461-42364521	K562	blood:	n/a	n/a
47	NR2F2	chr19:42363416-42364530	MCF-7	breast:	n/a	n/a
48	EGR1	chr19:42363490-42364480	H1-hESC	embryonic stem cell:	n/a	chr19:42363901-42363910
49	RCOR1	chr19:42363533-42364421	K562	blood:	n/a	n/a
50	MYC	chr19:42363503-42365618	K562	blood:	n/a	chr19:42364482-42364493 chr19:42364483-42364492 chr19:42364484-42364491 chr19:42364482-42364492 chr19:42364483-42364492

No.	Distal block	Cell Line	Cell type
1	chr19:42362804..42368897-chr19:42386582..42393421,16	MCF-7	breast:
2	chr19:42351673..42358248-chr19:42360570..42366998,12	K562	blood:
3	chr19:42347384..42349576-chr19:42363024..42365083,2	K562	blood:
4	chr19:42362767..42365637-chr19:42577892..42581321,5	K562	blood:
5	chr19:42363610..42364497-chr8:126442503..126443017,2	HCT-116	colon:
6	chr19:42333324..42335444-chr19:42364379..42366261,2	K562	blood:
7	chr12:54678901..54681605-chr19:42364228..42365826,2	K562	blood:
8	chr19:42361051..42365836-chr19:42460461..42465209,10	K562	blood:
9	chr19:42364075..42365757-chr19:42408269..42410021,2	K562	blood:
10	chr19:42363640..42364504-chr2:85765945..85766588,2	Hela-S3	cervix:
11	chr10:43133568..43134161-chr19:42363903..42364586,2	Hela-S3	cervix:
12	chr19:42361938..42366462-chr19:42459916..42465209,13	K562	blood:
13	chr19:42363659..42364430-chr19:42462556..42463157,2	K562	blood:
14	chr19:42333324..42335444-chr19:42363709..42366261,3	K562	blood:
15	chr19:42362802..42365669-chr19:42579542..42583856,4	MCF-7	breast:
16	chr19:42363979..42365756-chr19:42409559..42411922,2	MCF-7	breast:
17	chr19:42363781..42365777-chr19:42424724..42427512,3	K562	blood:
18	chr19:42363829..42364535-chr19:56826662..56827436,2	Hela-S3	cervix:
19	chr19:42347384..42349429-chr19:42363024..42365795,2	K562	blood:
20	chr11:62599152..62599822-chr19:42364246..42365008,2	Hela-S3	cervix:
21	chr19:42362818..42366371-chr19:42406679..42410305,7	MCF-7	breast:
22	chr19:42362719..42367011-chr19:42578185..42581831,5	K562	blood:
23	chr19:42362466..42365153-chr19:42745908..42747542,2	K562	blood:
24	chr19:42364213..42366472-chr19:42430072..42433705,3	K562	blood:
25	chr19:42362135..42368129-chr19:42461941..42464761,7	MCF-7	breast:
26	chr19:42361079..42367934-chr19:42431466..42436133,8	K562	blood:
27	chr19:42362252..42368846-chr19:42460307..42464966,15	MCF-7	breast:
28	chr19:42348714..42350614-chr19:42362981..42365600,2	MCF-7	breast:

Variant related genes	Relation type
RPS19	TF binding region
ENSG00000256690	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000135486	Chromatin interaction
ENSG00000272373	Chromatin interaction
ENSG00000142025	Chromatin interaction
ENSG00000105404	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000196693	Chromatin interaction
ENSG00000183103	Chromatin interaction
ENSG00000269119	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000076928	Chromatin interaction
ENSG00000173334	Chromatin interaction
ENSG00000267549	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10405900	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10414356	0.81[ASN][1000 genomes]
rs10415452	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10417985	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10500284	0.82[ASN][1000 genomes]
rs12461099	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12461131	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12984383	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1366610	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1428922	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2075749	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2075750	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2075752	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2075754	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2305809	0.82[ASN][1000 genomes]
rs3786536	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3786538	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3810153	0.84[ASN][1000 genomes]
rs3922888	0.81[ASN][1000 genomes]
rs4130852	0.81[ASN][1000 genomes]
rs4803511	0.81[ASN][1000 genomes]
rs4803512	0.81[ASN][1000 genomes]
rs58857981	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6509001	0.82[ASN][1000 genomes]
rs7250787	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7254214	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7257666	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7258163	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7259596	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7259967	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73549152	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8102670	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs873282	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs882520	0.85[ASN][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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv1061878	chr19:42325490-42416056	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv911776	chr19:42343526-42416056	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv911778	chr19:42358362-42416056	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs930102	RABAC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42363200-42364600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr19:42363200-42364600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:42363200-42364800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:42363200-42364800	Active TSS	Fetal Brain Female	brain
5	chr19:42363200-42364800	Active TSS	Stomach Mucosa	stomach
6	chr19:42363200-42365000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:42363200-42365000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:42363200-42365200	Active TSS	Fetal Kidney	kidney
9	chr19:42363400-42364400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:42363400-42364400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:42363400-42364600	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr19:42363400-42364600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:42363400-42364600	Active TSS	Fetal Muscle Trunk	muscle
14	chr19:42363400-42364600	Active TSS	HMEC	breast
15	chr19:42363400-42364800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr19:42363400-42364800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:42363400-42364800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr19:42363400-42364800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:42363400-42364800	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr19:42363400-42364800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:42363400-42364800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:42363400-42364800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:42363400-42364800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:42363400-42364800	Active TSS	Brain Cingulate Gyrus	brain
25	chr19:42363400-42364800	Active TSS	Brain Substantia Nigra	brain
26	chr19:42363400-42364800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr19:42363400-42364800	Active TSS	Left Ventricle	heart
28	chr19:42363400-42364800	Active TSS	Pancreas	Pancrea
29	chr19:42363400-42364800	Active TSS	Right Ventricle	heart
30	chr19:42363400-42364800	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr19:42363400-42364800	Active TSS	K562	blood
32	chr19:42363400-42365000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:42363400-42365000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr19:42363400-42365000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr19:42363400-42365000	Active TSS	Colonic Mucosa	Colon
36	chr19:42363400-42365000	Active TSS	Right Atrium	heart
37	chr19:42363400-42365000	Active TSS	NHDF-Ad	bronchial
38	chr19:42363400-42365200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr19:42363400-42365200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:42363400-42365200	Active TSS	Aorta	Aorta
41	chr19:42363400-42365200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr19:42363400-42365200	Active TSS	Ovary	ovary
43	chr19:42363400-42365200	Active TSS	Small Intestine	intestine
44	chr19:42363400-42365200	Active TSS	HSMMtube	muscle
45	chr19:42363400-42365400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr19:42363400-42365400	Active TSS	GM12878-XiMat	blood
47	chr19:42363400-42365600	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr19:42363400-42365600	Active TSS	Psoas Muscle	Psoas
49	chr19:42363600-42364600	Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr19:42363600-42364600	Active TSS	Primary B cells from cord blood	blood

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