Variant report

Variant	rs370409504
Chromosome Location	chr19:18943002-18943003
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	chr19:18942314-18943205	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr19:18942350-18943056	HEK293	kidney:	n/a	n/a
3	RUNX3	chr19:18942301-18943150	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:18942541-18943005	MCF10A-Er-Src	breast:	n/a	n/a
5	TAF7	chr19:18942594-18943079	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr19:18942471-18943075	K562	blood:	n/a	chr19:18942960-18942969 chr19:18942963-18942972 chr19:18942620-18942631
7	CHD1	chr19:18942747-18943685	GM12878	blood:	n/a	n/a
8	TAF1	chr19:18942593-18943112	SK-N-SH	brain:	n/a	n/a
9	HEY1	chr19:18942326-18943176	K562	blood:	n/a	chr19:18942870-18942885 chr19:18942617-18942632
10	POLR2A	chr19:18942411-18943056	GM19099	blood:	n/a	n/a
11	POLR2A	chr19:18942349-18943042	A549	lung:	n/a	n/a
12	SIN3AK20	chr19:18942438-18943176	PANC-1	pancreas:	n/a	n/a
13	PML	chr19:18942228-18943185	GM12878	blood:	n/a	n/a
14	PAX5	chr19:18942454-18943074	GM12892	blood:	n/a	chr19:18942704-18942713 chr19:18942735-18942744 chr19:18942651-18942660 chr19:18942706-18942715
15	ZNF263	chr19:18942450-18943123	HEK293-T-REx	kidney:	n/a	n/a
16	REST	chr19:18942114-18943328	H1-neurons	neurons:	n/a	chr19:18942639-18942652
17	POLR2A	chr19:18942433-18943095	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr19:18942493-18943157	GM12878	blood:	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	TAF1	chr19:18942497-18943048	K562	blood:	n/a	n/a
23	TAF1	chr19:18942502-18943185	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr19:18942410-18943794	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr19:18943000-18943150	GM12869	blood:	n/a	n/a
26	MYC	chr19:18942949-18943041	K562	blood:	n/a	n/a
27	CTCF	chr19:18943000-18943150	SK-N-SH_RA	brain:	n/a	n/a
28	POLR2A	chr19:18942409-18943129	ECC-1	luminal epithelium:	n/a	n/a
29	SMARCB1	chr19:18942386-18943110	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr19:18943000-18943150	HPF	lung:	n/a	n/a
31	POLR2A	chr19:18942394-18943009	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:18942440-18943193	GM12892	blood:	n/a	n/a
33	YY1	chr19:18942546-18943171	GM12878	blood:	n/a	chr19:18942960-18942969 chr19:18942963-18942972 chr19:18942620-18942631
34	KAP1	chr19:18942320-18943004	U2OS	brain:	n/a	n/a
35	MYC	chr19:18942447-18943770	K562	blood:	n/a	chr19:18943256-18943265 chr19:18943254-18943264
36	CTCF	chr19:18942980-18943130	SAEC	small airway:	n/a	n/a
37	ZEB1	chr19:18942850-18943019	GM12878	blood:	n/a	n/a
38	CTCF	chr19:18943000-18943150	HPAF	blood vessel:	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	ZEB1	chr19:18942618-18943155	GM12878	blood:	n/a	n/a
42	TAF7	chr19:18942495-18943083	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr19:18942399-18943168	GM12878	blood:	n/a	n/a
44	POLR2A	chr19:18942357-18943080	U87	brain:	n/a	n/a
45	POLR2A	chr19:18942374-18943019	GM15510	blood:	n/a	n/a
46	POLR2A	chr19:18942394-18943156	GM10847	blood:	n/a	n/a
47	POLR2A	chr19:18942275-18943151	MCF-7	breast:	n/a	n/a
48	CTCF	chr19:18942763-18943795	K562	blood:	n/a	n/a
49	CTCF	chr19:18943000-18943150	HMEC	breast:	n/a	n/a
50	POLR2A	chr19:18942432-18943065	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18942447..18943029-chr5:432096..432879,2	NB4	blood:
2	chr19:18942543..18946544-chr19:19028586..19032596,4	MCF-7	breast:
3	chr19:18792191..18795996-chr19:18942387..18945269,3	MCF-7	breast:

Variant related genes	Relation type
UPF1	TF binding region
ENSG00000063438	Chromatin interaction
ENSG00000105662	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000105669	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	chr19:18942200-18943400	Active TSS	Brain Germinal Matrix	brain
3	chr19:18942200-18943400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr19:18942200-18943400	Active TSS	Colonic Mucosa	Colon
5	chr19:18942200-18943600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr19:18942200-18943600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:18942200-18943600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:18942200-18943600	Active TSS	Primary T cells from cord blood	blood
9	chr19:18942200-18943600	Active TSS	Brain Angular Gyrus	brain
10	chr19:18942200-18943600	Active TSS	Brain Hippocampus Middle	brain
11	chr19:18942200-18943600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:18942200-18943600	Active TSS	Brain Substantia Nigra	brain
13	chr19:18942200-18943600	Active TSS	Fetal Brain Female	brain
14	chr19:18942200-18943800	Active TSS	Brain Cingulate Gyrus	brain
15	chr19:18942200-18943800	Active TSS	NHLF	lung
16	chr19:18942200-18944000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr19:18942200-18944000	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr19:18942200-18944000	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr19:18942200-18944200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:18942200-18944200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:18942200-18944400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:18942200-18944400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:18942200-18944400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:18942200-18944400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:18942200-18944400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:18942200-18944400	Active TSS	Muscle Satellite Cultured Cells	--
27	chr19:18942200-18944400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:18942200-18944400	Active TSS	Colon Smooth Muscle	Colon
29	chr19:18942200-18944400	Active TSS	Left Ventricle	heart
30	chr19:18942200-18944400	Active TSS	Ovary	ovary
31	chr19:18942200-18944400	Active TSS	Pancreas	Pancrea
32	chr19:18942200-18944400	Active TSS	Psoas Muscle	Psoas
33	chr19:18942200-18944400	Active TSS	Rectal Smooth Muscle	rectum
34	chr19:18942200-18944400	Active TSS	HSMM	muscle
35	chr19:18942200-18944400	Active TSS	NHDF-Ad	bronchial
36	chr19:18942200-18944400	Active TSS	Osteobl	bone
37	chr19:18942200-18944600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr19:18942200-18944600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr19:18942200-18944600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr19:18942200-18944600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:18942200-18944600	Active TSS	Fetal Kidney	kidney
42	chr19:18942200-18944600	Active TSS	Right Atrium	heart
43	chr19:18942200-18944600	Active TSS	A549	lung
44	chr19:18942200-18944600	Bivalent/Poised TSS	HepG2	liver
45	chr19:18942200-18944800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr19:18942200-18944800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr19:18942200-18945000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:18942200-18945000	Active TSS	Esophagus	oesophagus
49	chr19:18942200-18945000	Active TSS	Gastric	stomach
50	chr19:18942200-18945000	Active TSS	Lung	lung

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