Variant report

Variant	rs573309631
Chromosome Location	chr19:18061082-18061083
allele	-/AG
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	ELF1	chr19:18060916-18061680	GM12878	blood:	n/a	n/a
2	BACH1	chr19:18060643-18062459	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr19:18061079-18061296	GM12878	blood:	n/a	chr19:18061192-18061199 chr19:18061226-18061241
4	TCF7L2	chr19:18060770-18061107	HEK293	kidney:	n/a	chr19:18060945-18060959
5	MAZ	chr19:18061056-18061875	K562	blood:	n/a	chr19:18061470-18061479
6	MXI1	chr19:18060984-18061258	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr19:18060774-18062955	SK-N-MC	brain:	n/a	n/a
8	EGR1	chr19:18061045-18061381	K562	blood:	n/a	chr19:18061192-18061199 chr19:18061226-18061241
9	PAX5	chr19:18060987-18061638	GM12878	blood:	n/a	chr19:18061317-18061336 chr19:18061318-18061335 chr19:18061316-18061334
10	ZBTB7A	chr19:18061082-18062253	K562	blood:	n/a	n/a
11	POLR2A	chr19:18060889-18062267	H1-neurons	neurons:	n/a	n/a
12	MAX	chr19:18061048-18061484	GM12878	blood:	n/a	chr19:18061470-18061479
13	POLR2A	chr19:18060881-18061332	H1-hESC	embryonic stem cell:	n/a	n/a
14	PAX5	chr19:18061006-18061496	GM12878	blood:	n/a	chr19:18061317-18061336 chr19:18061318-18061335 chr19:18061316-18061334
15	MXI1	chr19:18061030-18061150	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:18060886-18061560	HCT-116	colon:	n/a	n/a
17	EBF1	chr19:18059974-18061771	GM12878	blood:	n/a	chr19:18060647-18060657 chr19:18061586-18061595 chr19:18060646-18060657 chr19:18061586-18061595
18	POLR2A	chr19:18060797-18061413	H1-hESC	embryonic stem cell:	n/a	n/a
19	PAX5	chr19:18060969-18061495	GM12878	blood:	n/a	chr19:18061317-18061336 chr19:18061318-18061335 chr19:18061316-18061334
20	SIN3A	chr19:18060894-18061355	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr19:18061076-18061862	GM12878	blood:	n/a	n/a
22	RUNX3	chr19:18060886-18061723	GM12878	blood:	n/a	n/a
23	TEAD4	chr19:18061028-18061405	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr19:18060962-18061320	H1-hESC	embryonic stem cell:	n/a	n/a
25	MTA3	chr19:18060779-18063005	GM12878	blood:	n/a	n/a
26	TCF7L2	chr19:18060538-18061818	HCT-116	colon:	n/a	chr19:18061680-18061689 chr19:18061223-18061232 chr19:18061678-18061692 chr19:18061681-18061691 chr19:18060945-18060959
27	RUNX3	chr19:18060823-18061644	GM12878	blood:	n/a	n/a
28	TCF7L2	chr19:18060933-18061116	PANC-1	pancreas:	n/a	chr19:18060945-18060959
29	ZBTB7A	chr19:18060972-18063672	ECC-1	luminal epithelium:	n/a	n/a
30	NFIC	chr19:18061020-18061542	GM12878	blood:	n/a	n/a
31	ZBTB7A	chr19:18061039-18062104	K562	blood:	n/a	n/a
32	ZNF143	chr19:18060944-18061798	GM12878	blood:	n/a	n/a
33	REST	chr19:18060819-18062369	H1-neurons	neurons:	n/a	chr19:18061754-18061767 chr19:18060820-18060829 chr19:18061883-18061893
34	PAX5	chr19:18061079-18061237	GM12878	blood:	n/a	n/a
35	RELA	chr19:18060950-18061722	GM19193	blood:	n/a	n/a
36	TBP	chr19:18060937-18061355	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTBP2	chr19:18060609-18061834	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZBTB7A	chr19:18060943-18063619	ECC-1	luminal epithelium:	n/a	n/a
39	ZNF143	chr19:18060984-18061200	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr19:18061069-18061714	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:18060790-18061923	H1-neurons	neurons:	n/a	n/a
42	PAX5	chr19:18061081-18061483	GM12892	blood:	n/a	chr19:18061317-18061336 chr19:18061318-18061335 chr19:18061316-18061334
43	MAZ	chr19:18061078-18063718	GM12878	blood:	n/a	chr19:18063486-18063496 chr19:18061896-18061906 chr19:18061470-18061479 chr19:18063392-18063402 chr19:18062846-18062856 chr19:18062005-18062015
44	POLR2A	chr19:18060887-18061393	HCT-116	colon:	n/a	n/a
45	EGR1	chr19:18060999-18061348	K562	blood:	n/a	chr19:18061192-18061199 chr19:18061226-18061241

No.	Distal block	Cell Line	Cell type
1	chr19:18058883..18061817-chr19:18083400..18086380,2	K562	blood:
2	chr19:18058855..18062679-chr19:18075387..18079032,3	MCF-7	breast:
3	chr19:18055988..18065489-chr19:18073307..18083163,16	K562	blood:
4	chr19:18060053..18061688-chr19:18218502..18220719,2	K562	blood:
5	chr19:18057399..18062095-chr19:18108081..18112546,5	K562	blood:
6	chr19:18059452..18062098-chr19:18102180..18104149,2	MCF-7	breast:
7	chr19:17969435..17972591-chr19:18056494..18062279,6	K562	blood:
8	chr19:17970109..17972099-chr19:18059372..18061707,2	MCF-7	breast:

Variant related genes	Relation type
KCNN1	TF binding region
ENSG00000105643	Chromatin interaction
ENSG00000252591	Chromatin interaction
ENSG00000105640	Chromatin interaction
ENSG00000105642	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911214	chr19:17827442-18123965	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv833772	chr19:17965173-18139337	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv911226	chr19:18007077-18075077	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911227	chr19:18007077-18117646	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
8	nsv911228	chr19:18038782-18101830	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv911229	chr19:18042945-18117646	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv911230	chr19:18059744-18092442	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv911231	chr19:18059744-18095251	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18059200-18062200	Enhancers	Fetal Brain Male	brain
2	chr19:18059200-18063800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
3	chr19:18059200-18064400	Enhancers	Pancreas	Pancrea
4	chr19:18059400-18062800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:18059400-18062800	Bivalent Enhancer	Stomach Mucosa	stomach
6	chr19:18059400-18064600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:18059600-18061400	Bivalent Enhancer	Fetal Intestine Small	intestine
8	chr19:18059600-18061600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr19:18059600-18061800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:18059600-18062200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:18059600-18064000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr19:18059600-18064200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
13	chr19:18059800-18061200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:18059800-18061200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
15	chr19:18059800-18061200	Weak transcription	Fetal Kidney	kidney
16	chr19:18059800-18061400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr19:18059800-18061400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:18059800-18061400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:18059800-18061800	Bivalent Enhancer	NH-A	brain
20	chr19:18059800-18063200	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr19:18059800-18063600	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr19:18059800-18063800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr19:18059800-18064000	Bivalent Enhancer	Fetal Thymus	thymus
24	chr19:18059800-18064200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr19:18059800-18064400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr19:18060000-18061200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:18060000-18061200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr19:18060000-18061200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
29	chr19:18060000-18061200	Bivalent Enhancer	Fetal Stomach	stomach
30	chr19:18060000-18061400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:18060000-18061400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr19:18060000-18061600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:18060000-18061600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr19:18060000-18061800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:18060000-18061800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
36	chr19:18060000-18062000	Enhancers	Liver	Liver
37	chr19:18060000-18062200	Enhancers	Ovary	ovary
38	chr19:18060000-18062200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
39	chr19:18060000-18063200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr19:18060000-18063800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr19:18060000-18063800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:18060000-18064200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr19:18060000-18065200	Bivalent Enhancer	Placenta	Placenta
44	chr19:18060200-18061200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
45	chr19:18060200-18061200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
46	chr19:18060400-18061200	Bivalent Enhancer	Esophagus	oesophagus
47	chr19:18060400-18061200	Bivalent Enhancer	Thymus	Thymus
48	chr19:18060400-18061400	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr19:18060400-18063600	Bivalent Enhancer	Brain Anterior Caudate	brain
50	chr19:18060600-18061200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain

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