Variant report

Variant	rs546295037
Chromosome Location	chr19:18942478-18942479
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	REST	chr19:18942365-18942629	K562	blood:	n/a	n/a
2	POLR2A	chr19:18942314-18943205	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr19:18942350-18943056	HEK293	kidney:	n/a	n/a
4	RUNX3	chr19:18942301-18943150	GM12878	blood:	n/a	n/a
5	YY1	chr19:18942471-18943075	K562	blood:	n/a	chr19:18942960-18942969 chr19:18942963-18942972 chr19:18942620-18942631
6	HEY1	chr19:18942326-18943176	K562	blood:	n/a	chr19:18942870-18942885 chr19:18942617-18942632
7	POLR2A	chr19:18942398-18942636	H1-hESC	embryonic stem cell:	n/a	n/a
8	SP1	chr19:18942309-18942877	H1-hESC	embryonic stem cell:	n/a	chr19:18942639-18942648 chr19:18942591-18942602 chr19:18942639-18942653 chr19:18942640-18942649 chr19:18942593-18942602 chr19:18942639-18942649 chr19:18942639-18942649 chr19:18942638-18942650 chr19:18942638-18942650
9	POLR2A	chr19:18942244-18942932	U87	brain:	n/a	n/a
10	POLR2A	chr19:18942411-18943056	GM19099	blood:	n/a	n/a
11	POLR2A	chr19:18942349-18943042	A549	lung:	n/a	n/a
12	POLR2A	chr19:18942404-18942938	SK-N-SH	brain:	n/a	n/a
13	SIN3AK20	chr19:18942438-18943176	PANC-1	pancreas:	n/a	n/a
14	PML	chr19:18942228-18943185	GM12878	blood:	n/a	n/a
15	PAX5	chr19:18942454-18943074	GM12892	blood:	n/a	chr19:18942704-18942713 chr19:18942735-18942744 chr19:18942651-18942660 chr19:18942706-18942715
16	ZNF263	chr19:18942450-18943123	HEK293-T-REx	kidney:	n/a	n/a
17	REST	chr19:18942114-18943328	H1-neurons	neurons:	n/a	chr19:18942639-18942652
18	POLR2A	chr19:18942433-18943095	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr19:18942261-18944046	K562	blood:	n/a	chr19:18943256-18943265 chr19:18943254-18943264
20	TAF1	chr19:18942412-18943099	K562	blood:	n/a	n/a
21	MAX	chr19:18942253-18943491	MCF-7	breast:	n/a	chr19:18943256-18943265 chr19:18943254-18943264
22	STAT5A	chr19:18942215-18942639	GM12878	blood:	n/a	n/a
23	IRF1	chr19:18942435-18942995	K562	blood:	n/a	chr19:18942506-18942519 chr19:18942636-18942650 chr19:18942505-18942519
24	POLR2A	chr19:18942410-18943794	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr19:18942409-18943129	ECC-1	luminal epithelium:	n/a	n/a
26	SMARCB1	chr19:18942386-18943110	Hela-S3	cervix:	n/a	n/a
27	NRF1	chr19:18942445-18942904	H1-hESC	embryonic stem cell:	n/a	chr19:18942734-18942743 chr19:18942650-18942664 chr19:18942652-18942661 chr19:18942650-18942661 chr19:18942647-18942661 chr19:18942734-18942745 chr19:18942650-18942661
28	POLR2A	chr19:18942394-18943009	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:18942359-18942983	HepG2	liver:	n/a	n/a
30	POLR2A	chr19:18942440-18943193	GM12892	blood:	n/a	n/a
31	KAP1	chr19:18942320-18943004	U2OS	brain:	n/a	n/a
32	POU2F2	chr19:18942346-18942832	GM12891	blood:	n/a	n/a
33	MYC	chr19:18942447-18943770	K562	blood:	n/a	chr19:18943256-18943265 chr19:18943254-18943264
34	PAX5	chr19:18942440-18942874	GM12878	blood:	n/a	chr19:18942704-18942713 chr19:18942735-18942744 chr19:18942651-18942660 chr19:18942706-18942715
35	POLR2A	chr19:18942372-18942939	H1-hESC	embryonic stem cell:	n/a	n/a
36	SMC3	chr19:18942410-18942735	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr19:18942275-18942858	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZNF143	chr19:18942368-18942872	Hela-S3	cervix:	n/a	n/a
39	YY1	chr19:18942377-18943207	HepG2	liver:	n/a	chr19:18942960-18942969 chr19:18942963-18942972 chr19:18942620-18942631
40	POLR2A	chr19:18942435-18943173	Hela-S3	cervix:	n/a	n/a
41	SIN3AK20	chr19:18942478-18942638	HepG2	liver:	n/a	n/a
42	POLR2A	chr19:18942399-18943168	GM12878	blood:	n/a	n/a
43	POLR2A	chr19:18942357-18943080	U87	brain:	n/a	n/a
44	POLR2A	chr19:18942374-18943019	GM15510	blood:	n/a	n/a
45	POLR2A	chr19:18942394-18943156	GM10847	blood:	n/a	n/a
46	MTA3	chr19:18942211-18942637	GM12878	blood:	n/a	n/a
47	POLR2A	chr19:18942374-18942974	HepG2	liver:	n/a	n/a
48	HEY1	chr19:18942451-18942948	HepG2	liver:	n/a	chr19:18942870-18942885 chr19:18942617-18942632
49	POLR2A	chr19:18942275-18943151	MCF-7	breast:	n/a	n/a
50	POLR2A	chr19:18942355-18943001	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18942465-18942515	IMR90	lung:	fetal
2	chr19:18942465-18942515	HEK293	kidney:	embryo
3	chr19:18942465-18942515	NB4	blood:	n/a
4	chr19:18942465-18942515	H1-hESC	embryonic stem cell:	embryo
5	chr19:18942465-18942515	SAEC	small airway:	n/a
6	chr19:18942465-18942515	NHBE	bronchial:	n/a
7	chr19:18942465-18942515	AG04449	skin:	fetal
8	chr19:18942465-18942515	GM12878	blood:	n/a
9	chr19:18942465-18942515	PANC-1	pancreas:	n/a
10	chr19:18942465-18942515	Hela-S3	cervix:	n/a
11	chr19:18942465-18942515	HepG2	liver:	n/a
12	chr19:18942465-18942515	SK-N-MC	brain:	n/a
13	chr19:18942465-18942515	HRE	kidney:	n/a
14	chr19:18942465-18942515	CMK	blood:	n/a
15	chr19:18942465-18942515	HIPEpiC	eye:	n/a
16	chr19:18942465-18942515	GM12891	blood:	n/a
17	chr19:18942465-18942515	NH-A	brain:	n/a
18	chr19:18942465-18942515	K562	blood:	n/a
19	chr19:18942465-18942515	Caco-2	colon:	n/a
20	chr19:18942465-18942515	SK-N-SH	brain:	n/a
21	chr19:18942465-18942515	NT2-D1	testis:	n/a
22	chr19:18942465-18942515	HCT-116	colon:	n/a
23	chr19:18942465-18942515	AG09309	skin:	n/a
24	chr19:18942465-18942515	SKMC	muscle:	n/a
25	chr19:18942465-18942515	SK-N-SH_RA	brain:	n/a
26	chr19:18942465-18942515	AG10803	skin:	n/a
27	chr19:18942465-18942515	HCM	heart:	n/a
28	chr19:18942465-18942515	HEEpiC	esophagus:	n/a
29	chr19:18942465-18942515	GM12892	blood:	n/a
30	chr19:18942465-18942515	HPAEpiC	pulmonary alveolar:	n/a
31	chr19:18942465-18942515	BE2_C	brain:	n/a
32	chr19:18942465-18942515	HNPCEpiC	eye:	n/a
33	chr19:18942465-18942515	U87	brain:	n/a
34	chr19:18942465-18942515	HL-60	blood:	n/a
35	chr19:18942465-18942515	AoSMC	blood vessel:	n/a
36	chr19:18942465-18942515	ovcar-3	ovarian:	n/a
37	chr19:18942465-18942515	ProgFib	skin:	n/a
38	chr19:18942465-18942515	A549	lung:	n/a
39	chr19:18942465-18942515	PFSK-1	brain:	n/a
40	chr19:18942465-18942515	AG04450	lung:	fetal
41	chr19:18942465-18942515	GM19239	blood:	n/a
42	chr19:18942465-18942515	GM06990	blood:	n/a
43	chr19:18942465-18942515	HCPEpiC	choroid plexus:	n/a
44	chr19:18942465-18942515	HUVEC	blood vessel:	n/a
45	chr19:18942465-18942515	MCF-7	breast:	n/a
46	chr19:18942465-18942515	HRPEpiC	eye:	n/a
47	chr19:18942465-18942515	HCF	heart:	n/a
48	chr19:18942465-18942515	ECC-1	luminal epithelium:	n/a
49	chr19:18942465-18942515	T-47D	breast:	n/a
50	chr19:18942465-18942515	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18942447..18943029-chr5:432096..432879,2	NB4	blood:
2	chr19:18792191..18795996-chr19:18942387..18945269,3	MCF-7	breast:

Variant related genes	Relation type
UPF1	TF binding region
UPF1	CpG island
ENSG00000063438	Chromatin interaction
ENSG00000105662	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911299	chr19:18939954-18984843	Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv3407673	chr19:18941977-18944525	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3452119	chr19:18942002-18944150	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18941600-18943800	Active TSS	Duodenum Mucosa	Duodenum
2	chr19:18942200-18942600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
3	chr19:18942200-18942600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr19:18942200-18942600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr19:18942200-18942600	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr19:18942200-18942600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr19:18942200-18942600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr19:18942200-18942600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:18942200-18942600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr19:18942200-18942600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr19:18942200-18942600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:18942200-18942600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr19:18942200-18942600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:18942200-18942600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr19:18942200-18942600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr19:18942200-18942600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:18942200-18942600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:18942200-18942600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr19:18942200-18942600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr19:18942200-18942600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:18942200-18942600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:18942200-18942600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:18942200-18942600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr19:18942200-18942600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:18942200-18942600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:18942200-18942600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:18942200-18942600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr19:18942200-18942600	Flanking Active TSS	Liver	Liver
29	chr19:18942200-18942600	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr19:18942200-18942600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr19:18942200-18942600	Enhancers	Fetal Heart	heart
32	chr19:18942200-18942600	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr19:18942200-18942600	Flanking Active TSS	Placenta	Placenta
34	chr19:18942200-18942600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr19:18942200-18942600	Flanking Active TSS	Fetal Thymus	thymus
36	chr19:18942200-18942600	Flanking Active TSS	Right Ventricle	heart
37	chr19:18942200-18942600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr19:18942200-18942600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr19:18942200-18942600	Active TSS	Stomach Mucosa	stomach
40	chr19:18942200-18942600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr19:18942200-18942600	Flanking Active TSS	Dnd41	blood
42	chr19:18942200-18942600	Flanking Active TSS	GM12878-XiMat	blood
43	chr19:18942200-18942600	Flanking Active TSS	Hela-S3	cervix
44	chr19:18942200-18942600	Flanking Active TSS	HMEC	breast
45	chr19:18942200-18942600	Flanking Active TSS	HUVEC	blood vessel
46	chr19:18942200-18942600	Flanking Active TSS	K562	blood
47	chr19:18942200-18942600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr19:18942200-18942600	Flanking Active TSS	NH-A	brain
49	chr19:18942200-18942600	Flanking Active TSS	NHEK	skin
50	chr19:18942200-18943400	Active TSS	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links