Variant report

Variant	rs190619039
Chromosome Location	chr2:30369021-30369022
allele	G/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	chr2:30369000-30370222	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:30368744-30370075	GM12891	blood:	n/a	n/a
3	ZNF143	chr2:30368968-30370255	GM12878	blood:	n/a	chr2:30370111-30370121 chr2:30370242-30370252
4	BHLHE40	chr2:30368862-30370056	K562	blood:	n/a	n/a
5	HCFC1	chr2:30368901-30370232	Hela-S3	cervix:	n/a	n/a
6	JUN	chr2:30368943-30370313	K562	blood:	n/a	chr2:30369764-30369773 chr2:30369425-30369437 chr2:30369427-30369435 chr2:30369532-30369541
7	BHLHE40	chr2:30368861-30369864	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:30368901-30370090	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:30368827-30370102	K562	blood:	n/a	n/a
10	TCF12	chr2:30368862-30370179	A549	lung:	n/a	n/a
11	TAF1	chr2:30368993-30370301	H1-neurons	neurons:	n/a	n/a
12	SP1	chr2:30369015-30370041	A549	lung:	n/a	chr2:30369566-30369576 chr2:30369669-30369681 chr2:30369670-30369679 chr2:30369566-30369576 chr2:30369708-30369720 chr2:30369567-30369576 chr2:30369670-30369680 chr2:30369565-30369577 chr2:30369671-30369680 chr2:30369666-30369680 chr2:30369566-30369575 chr2:30369708-30369720 chr2:30369765-30369777 chr2:30369567-30369576 chr2:30369709-30369719 chr2:30369710-30369719 chr2:30369765-30369777 chr2:30369565-30369577 chr2:30369710-30369719 chr2:30369709-30369718 chr2:30369670-30369680 chr2:30369523-30369544 chr2:30369615-30369626 chr2:30369565-30369576 chr2:30369766-30369775 chr2:30369767-30369776 chr2:30369709-30369719 chr2:30369671-30369680 chr2:30369762-30369776 chr2:30369669-30369681
13	MAZ	chr2:30368876-30371087	IMR90	lung:	n/a	n/a
14	POLR2A	chr2:30368974-30371135	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr2:30368576-30371359	MCF10A-Er-Src	breast:	n/a	n/a
16	RCOR1	chr2:30368906-30369592	GM12878	blood:	n/a	n/a
17	MAX	chr2:30368996-30370030	HCT-116	colon:	n/a	n/a
18	POLR2A	chr2:30368887-30371000	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr2:30368986-30369469	GM12878	blood:	n/a	n/a
20	MAX	chr2:30369014-30371036	A549	lung:	n/a	n/a
21	CHD2	chr2:30369021-30370119	GM12878	blood:	n/a	chr2:30369572-30369582 chr2:30369567-30369577
22	CEBPB	chr2:30368923-30369848	HepG2	liver:	n/a	chr2:30369534-30369542
23	SIN3AK20	chr2:30368953-30370189	MCF-7	breast:	n/a	n/a
24	CUX1	chr2:30368959-30369646	GM12878	blood:	n/a	n/a
25	NFYB	chr2:30368769-30369907	GM12878	blood:	n/a	chr2:30369531-30369545
26	MAX	chr2:30369011-30369996	HCT-116	colon:	n/a	n/a
27	SIN3AK20	chr2:30369021-30369638	A549	lung:	n/a	n/a
28	MYC	chr2:30368931-30369546	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:30368964-30370217	PBDE	blood:	n/a	n/a
30	EP300	chr2:30368982-30369975	GM12878	blood:	n/a	chr2:30369604-30369620
31	MAX	chr2:30368990-30370042	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr2:30368868-30371293	SK-N-SH	brain:	n/a	chr2:30370307-30370320 chr2:30370308-30370318 chr2:30369319-30369326
33	MXI1	chr2:30368627-30371538	IMR90	lung:	n/a	n/a
34	MXI1	chr2:30368738-30371599	SK-N-SH	brain:	n/a	n/a
35	MAZ	chr2:30368982-30371010	K562	blood:	n/a	n/a
36	MTA3	chr2:30369002-30369652	GM12878	blood:	n/a	n/a
37	REST	chr2:30368584-30371302	H1-neurons	neurons:	n/a	chr2:30369549-30369563 chr2:30369595-30369608 chr2:30369551-30369561
38	EP300	chr2:30368805-30369965	GM12878	blood:	n/a	chr2:30369604-30369620
39	MXI1	chr2:30368805-30369956	GM12878	blood:	n/a	n/a
40	CHD1	chr2:30368604-30371625	IMR90	lung:	n/a	chr2:30369572-30369582 chr2:30369567-30369577
41	TCF7L2	chr2:30369013-30369865	Hela-S3	cervix:	n/a	chr2:30369426-30369435
42	SP1	chr2:30368871-30370135	HCT-116	colon:	n/a	chr2:30369566-30369576 chr2:30369669-30369681 chr2:30369670-30369679 chr2:30369566-30369576 chr2:30369708-30369720 chr2:30369567-30369576 chr2:30369670-30369680 chr2:30369565-30369577 chr2:30369671-30369680 chr2:30369666-30369680 chr2:30369566-30369575 chr2:30369708-30369720 chr2:30369765-30369777 chr2:30369567-30369576 chr2:30369709-30369719 chr2:30369710-30369719 chr2:30369765-30369777 chr2:30369565-30369577 chr2:30369710-30369719 chr2:30369709-30369718 chr2:30369670-30369680 chr2:30369523-30369544 chr2:30369615-30369626 chr2:30369565-30369576 chr2:30369766-30369775 chr2:30369767-30369776 chr2:30369709-30369719 chr2:30369671-30369680 chr2:30369762-30369776 chr2:30369669-30369681
43	NRF1	chr2:30368943-30369813	GM12878	blood:	n/a	n/a
44	SIN3A	chr2:30368914-30371389	H1-hESC	embryonic stem cell:	n/a	chr2:30368966-30368974 chr2:30369701-30369714 chr2:30369548-30369562
45	MAX	chr2:30368849-30369944	A549	lung:	n/a	n/a
46	EP300	chr2:30368963-30369929	K562	blood:	n/a	chr2:30369604-30369620
47	TAF1	chr2:30369012-30369593	H1-neurons	neurons:	n/a	n/a
48	MAX	chr2:30368918-30371136	A549	lung:	n/a	n/a
49	SP1	chr2:30368925-30370102	HCT-116	colon:	n/a	chr2:30369566-30369576 chr2:30369669-30369681 chr2:30369670-30369679 chr2:30369566-30369576 chr2:30369708-30369720 chr2:30369567-30369576 chr2:30369670-30369680 chr2:30369565-30369577 chr2:30369671-30369680 chr2:30369666-30369680 chr2:30369566-30369575 chr2:30369708-30369720 chr2:30369765-30369777 chr2:30369567-30369576 chr2:30369709-30369719 chr2:30369710-30369719 chr2:30369765-30369777 chr2:30369565-30369577 chr2:30369710-30369719 chr2:30369709-30369718 chr2:30369670-30369680 chr2:30369523-30369544 chr2:30369615-30369626 chr2:30369565-30369576 chr2:30369766-30369775 chr2:30369767-30369776 chr2:30369709-30369719 chr2:30369671-30369680 chr2:30369762-30369776 chr2:30369669-30369681
50	CEBPB	chr2:30368979-30369897	A549	lung:	n/a	chr2:30369534-30369542

No.	Distal block	Cell Line	Cell type
1	chr2:30361445..30366413-chr2:30367443..30370864,6	MCF-7	breast:
2	chr2:30368663..30370783-chr2:30453321..30456156,2	K562	blood:
3	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:
4	chr2:30337518..30339089-chr2:30368226..30369771,2	K562	blood:
5	chr2:30357579..30360858-chr2:30368602..30370618,3	MCF-7	breast:

Variant related genes	Relation type
YPEL5	TF binding region
ENSG00000233862	TF binding region
ENSG00000119801	Chromatin interaction
ENSG00000233862	Chromatin interaction
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1794716	chr2:30356661-30370785	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3373211	chr2:30368973-30372021	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30368600-30369200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr2:30368600-30369200	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr2:30368600-30369200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr2:30368600-30369200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr2:30368600-30369200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:30368600-30369200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr2:30368600-30369200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr2:30368600-30369200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:30368600-30369200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr2:30368600-30369200	Flanking Active TSS	HMEC	breast
11	chr2:30368600-30369200	Flanking Active TSS	NHEK	skin
12	chr2:30368600-30369400	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr2:30368600-30369400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:30368600-30369400	Flanking Active TSS	GM12878-XiMat	blood
15	chr2:30368600-30370800	Active TSS	Fetal Brain Female	brain
16	chr2:30368600-30371200	Active TSS	Brain Angular Gyrus	brain
17	chr2:30368800-30369200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:30368800-30369200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:30368800-30369200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
20	chr2:30368800-30369200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:30368800-30369200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr2:30368800-30369200	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr2:30368800-30369200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:30368800-30369200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr2:30368800-30369200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:30368800-30369200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr2:30368800-30369200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:30368800-30369200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:30368800-30369200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:30368800-30369200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr2:30368800-30369200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:30368800-30369200	Flanking Active TSS	Colonic Mucosa	Colon
33	chr2:30368800-30369200	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr2:30368800-30369200	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr2:30368800-30369200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:30368800-30369200	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr2:30368800-30369200	Flanking Active TSS	Thymus	Thymus
38	chr2:30368800-30369200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr2:30368800-30369200	Flanking Active TSS	NHDF-Ad	bronchial
40	chr2:30368800-30369400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr2:30368800-30369400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:30368800-30369400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:30368800-30369400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:30368800-30369400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr2:30368800-30369400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:30368800-30369400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:30368800-30369400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:30368800-30369400	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr2:30368800-30369400	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr2:30368800-30369400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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