Variant report

Variant	rs527369107
Chromosome Location	chr19:40337735-40337736
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	REST	chr19:40335834-40337911	A549	lung:	n/a	chr19:40337343-40337363 chr19:40337343-40337363
2	POLR2A	chr19:40336690-40337741	HEK293	kidney:	n/a	n/a
3	POLR2A	chr19:40336042-40338044	SK-N-MC	brain:	n/a	n/a
4	PML	chr19:40337545-40337992	K562	blood:	n/a	n/a
5	POLR2A	chr19:40336375-40338177	HepG2	liver:	n/a	n/a
6	TEAD4	chr19:40336777-40338097	K562	blood:	n/a	n/a
7	ZMIZ1	chr19:40337624-40337813	K562	blood:	n/a	n/a
8	GABPA	chr19:40337553-40337877	K562	blood:	n/a	n/a
9	MAX	chr19:40336027-40337737	A549	lung:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
10	PML	chr19:40336704-40337871	K562	blood:	n/a	n/a
11	HCFC1	chr19:40336735-40337870	K562	blood:	n/a	n/a
12	RCOR1	chr19:40337155-40338022	K562	blood:	n/a	n/a
13	POLR2A	chr19:40336294-40337877	K562	blood:	n/a	n/a
14	MAX	chr19:40334506-40337825	A549	lung:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
15	POLR2A	chr19:40337566-40337901	K562	blood:	n/a	n/a
16	MXI1	chr19:40336790-40337905	K562	blood:	n/a	n/a
17	MYC	chr19:40334790-40338257	A549	lung:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
18	TBL1XR1	chr19:40336948-40337893	K562	blood:	n/a	n/a
19	POLR2A	chr19:40306432-40338982	PANC-1	pancreas:	n/a	n/a
20	NR2F2	chr19:40336195-40338018	K562	blood:	n/a	n/a
21	UBTF	chr19:40337626-40337943	K562	blood:	n/a	n/a
22	CEBPD	chr19:40336651-40338130	K562	blood:	n/a	n/a
23	E2F6	chr19:40336116-40337933	H1-hESC	embryonic stem cell:	n/a	chr19:40336371-40336378 chr19:40336371-40336378 chr19:40336367-40336379 chr19:40337100-40337109 chr19:40336368-40336379 chr19:40337021-40337030 chr19:40336371-40336378
24	EP300	chr19:40337190-40337978	K562	blood:	n/a	n/a
25	POLR2A	chr19:40337688-40337755	HUVEC	blood vessel:	n/a	n/a
26	BCL3	chr19:40335911-40337944	A549	lung:	n/a	chr19:40337140-40337153 chr19:40337204-40337213
27	MAZ	chr19:40337601-40337962	K562	blood:	n/a	n/a
28	IRF1	chr19:40336786-40337955	K562	blood:	n/a	chr19:40337204-40337224 chr19:40337206-40337220 chr19:40336845-40336859 chr19:40337275-40337292 chr19:40337061-40337075
29	SIN3AK20	chr19:40332892-40340524	PANC-1	pancreas:	n/a	n/a
30	ARID3A	chr19:40337324-40337798	K562	blood:	n/a	n/a
31	UBTF	chr19:40336839-40337911	K562	blood:	n/a	n/a
32	POLR2A	chr19:40337717-40337757	ProgFib	skin:	n/a	n/a
33	GATA2	chr19:40337555-40337985	K562	blood:	n/a	n/a
34	TBP	chr19:40336656-40337943	K562	blood:	n/a	n/a
35	MYC	chr19:40336192-40338009	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
36	GATA2	chr19:40337460-40338016	K562	blood:	n/a	n/a
37	MYC	chr19:40336050-40337953	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
38	CTCF	chr19:40334289-40338535	A549	lung:	n/a	chr19:40336774-40336782 chr19:40336634-40336647
39	HCFC1	chr19:40336050-40338190	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr19:40336297-40337765	Hela-S3	cervix:	n/a	n/a
41	RCOR1	chr19:40336833-40337999	K562	blood:	n/a	n/a
42	NRF1	chr19:40336689-40337865	SK-N-SH	brain:	n/a	chr19:40337020-40337034 chr19:40337096-40337110 chr19:40337020-40337031 chr19:40337020-40337031 chr19:40337099-40337113 chr19:40337099-40337110 chr19:40337027-40337036
43	REST	chr19:40337575-40337915	K562	blood:	n/a	n/a
44	TRIM28	chr19:40337425-40338006	K562	blood:	n/a	n/a
45	HDAC2	chr19:40337606-40337930	K562	blood:	n/a	n/a
46	MAX	chr19:40337600-40337883	K562	blood:	n/a	n/a
47	SIX5	chr19:40336100-40337891	A549	lung:	n/a	n/a
48	MYC	chr19:40336277-40338032	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
49	SIN3AK20	chr19:40334304-40340581	PANC-1	pancreas:	n/a	n/a
50	MYC	chr19:40336360-40337904	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015

No.	Distal block	Cell Line	Cell type
1	chr19:40337132..40339013-chr19:40340235..40342919,2	MCF-7	breast:
2	chr19:40330455..40332873-chr19:40336316..40338752,3	MCF-7	breast:
3	chr19:40335423..40338376-chr19:40475745..40478585,3	MCF-7	breast:
4	chr19:40337506..40339114-chr19:40356435..40358897,2	MCF-7	breast:
5	chr19:40322842..40325581-chr19:40335629..40338491,6	MCF-7	breast:
6	chr19:40337126..40339206-chr19:40352976..40355937,2	K562	blood:
7	chr19:40327506..40332289-chr19:40333216..40337866,9	MCF-7	breast:
8	chr19:40294943..40296744-chr19:40337305..40340033,2	MCF-7	breast:
9	chr19:39925314..39927864-chr19:40336547..40338108,2	K562	blood:
10	chr19:40321340..40326326-chr19:40333108..40338214,12	MCF-7	breast:
11	chr19:39926041..39928299-chr19:40334872..40337810,2	MCF-7	breast:

Variant related genes	Relation type
FBL	TF binding region
ENSG00000013275	Chromatin interaction
ENSG00000105204	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000105202	Chromatin interaction
ENSG00000196235	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911696	chr19:40310497-40344648	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv1008734	chr19:40337724-40338205	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40334800-40337800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:40335800-40337800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr19:40335800-40338000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr19:40336000-40337800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr19:40336200-40337800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr19:40336600-40337800	Active TSS	Brain Anterior Caudate	brain
7	chr19:40336600-40337800	Active TSS	Colonic Mucosa	Colon
8	chr19:40336600-40338400	Active TSS	Stomach Mucosa	stomach
9	chr19:40337200-40337800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:40337200-40337800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:40337200-40337800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr19:40337200-40337800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr19:40337200-40337800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr19:40337200-40337800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr19:40337200-40337800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:40337200-40337800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:40337200-40337800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr19:40337200-40337800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr19:40337200-40337800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr19:40337200-40337800	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr19:40337200-40337800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr19:40337200-40337800	Enhancers	Small Intestine	intestine
23	chr19:40337200-40337800	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr19:40337200-40337800	Flanking Active TSS	Thymus	Thymus
25	chr19:40337200-40337800	Flanking Active TSS	A549	lung
26	chr19:40337200-40337800	Flanking Active TSS	Dnd41	blood
27	chr19:40337200-40337800	Flanking Active TSS	Hela-S3	cervix
28	chr19:40337200-40337800	Flanking Active TSS	Osteobl	bone
29	chr19:40337200-40338000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr19:40337200-40338000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr19:40337200-40338000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr19:40337200-40338000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr19:40337200-40338000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr19:40337200-40338000	Flanking Active TSS	HepG2	liver
35	chr19:40337200-40338000	Flanking Active TSS	NHEK	skin
36	chr19:40337200-40338200	Flanking Active TSS	K562	blood
37	chr19:40337200-40338400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:40337400-40337800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
39	chr19:40337400-40337800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:40337400-40337800	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr19:40337400-40337800	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr19:40337400-40337800	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr19:40337400-40337800	Enhancers	Esophagus	oesophagus
44	chr19:40337400-40338000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr19:40337400-40338000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr19:40337400-40338000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:40337400-40338000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:40337400-40338000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:40337400-40338000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:40337400-40338000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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