Variant report

Variant	rs35009020
Chromosome Location	chr19:42432549-42432550
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:42432460-42432610	GM12871	blood:	n/a	n/a
2	CTCF	chr19:42432473-42432684	MCF-7	breast:	n/a	n/a
3	RCOR1	chr19:42432471-42432660	K562	blood:	n/a	n/a
4	HDAC2	chr19:42432467-42432761	K562	blood:	n/a	n/a
5	CTCF	chr19:42432520-42432670	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr19:42432540-42432690	GM12875	blood:	n/a	n/a
7	BHLHE40	chr19:42432539-42432572	K562	blood:	n/a	n/a
8	CTCF	chr19:42432480-42432630	GM12866	blood:	n/a	n/a
9	CCNT2	chr19:42432399-42432818	K562	blood:	n/a	n/a
10	RCOR1	chr19:42432368-42432753	K562	blood:	n/a	n/a
11	UBTF	chr19:42432343-42433257	K562	blood:	n/a	n/a
12	HA-E2F1	chr19:42432320-42432847	MCF-7	breast:	n/a	n/a
13	POLR2A	chr19:42432183-42433514	K562	blood:	n/a	n/a
14	POLR2A	chr19:42432325-42432814	K562	blood:	n/a	n/a
15	CTCF	chr19:42432460-42432610	GM12868	blood:	n/a	n/a
16	MAZ	chr19:42431762-42433619	K562	blood:	n/a	chr19:42432123-42432133
17	POLR2A	chr19:42432359-42432841	K562	blood:	n/a	n/a
18	CTCF	chr19:42432491-42432679	GM19238	blood:	n/a	n/a
19	MYC	chr19:42432489-42433529	K562	blood:	n/a	n/a
20	MAFK	chr19:42432531-42432552	K562	blood:	n/a	n/a
21	MYC	chr19:42432499-42432843	K562	blood:	n/a	n/a
22	CTCF	chr19:42432480-42432630	GM12869	blood:	n/a	n/a
23	CTCF	chr19:42432493-42432652	Gliobla	brain:	n/a	n/a
24	E2F6	chr19:42432486-42433426	K562	blood:	n/a	n/a
25	POLR2A	chr19:42432459-42432645	MCF-7	breast:	n/a	n/a
26	ZNF263	chr19:42432362-42433506	HEK293-T-REx	kidney:	n/a	chr19:42432616-42432637
27	ZNF143	chr19:42432336-42432607	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr19:42432435-42432699	K562	blood:	n/a	n/a
29	HMGN3	chr19:42432407-42433455	K562	blood:	n/a	n/a
30	CTCF	chr19:42432469-42432695	GM12891	blood:	n/a	n/a
31	CTCF	chr19:42432303-42432792	K562	blood:	n/a	n/a
32	CTCF	chr19:42432480-42432689	K562	blood:	n/a	n/a
33	CTCF	chr19:42432480-42432630	WERI-Rb-1	eye:	n/a	n/a
34	TAF1	chr19:42432431-42432862	K562	blood:	n/a	n/a
35	ZNF263	chr19:42432368-42433528	K562	blood:	n/a	chr19:42432616-42432637
36	TBL1XR1	chr19:42432446-42432730	K562	blood:	n/a	n/a
37	UBTF	chr19:42432322-42433679	K562	blood:	n/a	n/a
38	ZBTB7A	chr19:42432449-42432832	K562	blood:	n/a	n/a
39	MAZ	chr19:42432545-42432830	GM12878	blood:	n/a	n/a
40	EGR1	chr19:42432440-42433195	K562	blood:	n/a	chr19:42432894-42432907 chr19:42432908-42432917 chr19:42432905-42432918
41	MYC	chr19:42432365-42433553	K562	blood:	n/a	n/a
42	ZBTB7A	chr19:42431634-42433172	K562	blood:	n/a	n/a
43	CTCF	chr19:42432538-42432646	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUND	chr19:42432449-42432800	K562	blood:	n/a	n/a
45	POLR2A	chr19:42431852-42433641	Raji	blood:	n/a	n/a
46	HEY1	chr19:42432344-42432717	K562	blood:	n/a	n/a
47	MYC	chr19:42432541-42432729	MCF-7	breast:	n/a	n/a
48	ELF1	chr19:42432300-42432836	GM12878	blood:	n/a	n/a
49	CTCF	chr19:42432503-42432678	MCF-7	breast:	n/a	n/a
50	CTCF	chr19:42432449-42432710	GM12892	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42361079..42367934-chr19:42431466..42436133,8	K562	blood:
2	chr19:42364213..42366472-chr19:42430072..42433705,3	K562	blood:
3	chr19:42384855..42393410-chr19:42428364..42439251,22	K562	blood:
4	chr19:42430426..42435985-chr19:42461209..42463660,4	K562	blood:
5	chr19:42382327..42390135-chr19:42429723..42437438,12	MCF-7	breast:
6	chr19:42385706..42396512-chr19:42423854..42433641,19	K562	blood:
7	chr19:42398480..42400174-chr19:42432062..42434996,2	K562	blood:

No data

Variant related genes	Relation type
ARHGEF1	TF binding region
ENSG00000105404	Chromatin interaction
ENSG00000105372	Chromatin interaction
ENSG00000076928	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35287851	0.81[AMR][1000 genomes];0.87[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	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
3	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
4	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv911780	chr19:42398450-42521108	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv911781	chr19:42398450-42542999	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35009020	RABAC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42430600-42433000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:42431600-42433000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr19:42431600-42433000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr19:42431600-42433000	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
5	chr19:42431800-42432800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:42431800-42433000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr19:42431800-42433000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr19:42431800-42433000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr19:42431800-42433000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:42431800-42433000	Bivalent Enhancer	Fetal Brain Male	brain
11	chr19:42431800-42433000	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr19:42431800-42433200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:42431800-42433200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:42431800-42434000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr19:42432000-42432600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:42432000-42432600	Bivalent Enhancer	Placenta	Placenta
17	chr19:42432000-42432600	Bivalent/Poised TSS	Thymus	Thymus
18	chr19:42432000-42432800	Active TSS	Primary B cells from peripheral blood	blood
19	chr19:42432000-42432800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:42432000-42433000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
21	chr19:42432000-42433000	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr19:42432000-42433000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:42432000-42433000	Bivalent/Poised TSS	Psoas Muscle	Psoas
24	chr19:42432000-42433000	Active TSS	Right Atrium	heart
25	chr19:42432000-42433000	Bivalent/Poised TSS	A549	lung
26	chr19:42432000-42433000	Active TSS	K562	blood
27	chr19:42432000-42433600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr19:42432200-42432600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:42432200-42432600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:42432200-42432600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr19:42432200-42432600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr19:42432200-42432800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:42432200-42432800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
34	chr19:42432200-42432800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr19:42432200-42433000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:42432200-42433000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:42432200-42433000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr19:42432200-42433000	Active TSS	Primary T cells fromperipheralblood	blood
39	chr19:42432200-42433000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr19:42432200-42433000	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr19:42432200-42433000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:42432200-42433000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:42432200-42433000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:42432200-42433000	Active TSS	Ovary	ovary
45	chr19:42432200-42433000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
46	chr19:42432200-42433000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
47	chr19:42432200-42433000	Bivalent/Poised TSS	HepG2	liver
48	chr19:42432200-42433000	Bivalent/Poised TSS	NHLF	lung
49	chr19:42432200-42433200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:42432200-42433200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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