Variant report

Variant	rs2238674
Chromosome Location	chr19:19335751-19335752
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	MAX	chr19:19335591-19336430	HepG2	liver:	n/a	n/a
2	MAX	chr19:19335594-19336377	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr19:19335520-19336538	K562	blood:	n/a	n/a
4	MAX	chr19:19335624-19336440	ECC-1	luminal epithelium:	n/a	n/a
5	GABPA	chr19:19335391-19336206	K562	blood:	n/a	chr19:19336100-19336109
6	TCF3	chr19:19335726-19336004	GM12878	blood:	n/a	n/a
7	MAX	chr19:19335553-19336409	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr19:19335675-19336332	HepG2	liver:	n/a	chr19:19336098-19336112 chr19:19335772-19335783
9	JUN	chr19:19335505-19336820	K562	blood:	n/a	n/a
10	CTCF	chr19:19335536-19336363	K562	blood:	n/a	chr19:19336087-19336097 chr19:19336217-19336227 chr19:19336084-19336102 chr19:19336090-19336099 chr19:19336085-19336101
11	CREB1	chr19:19335712-19336264	A549	lung:	n/a	n/a
12	E2F6	chr19:19335646-19336331	K562	blood:	n/a	chr19:19336100-19336109
13	CTCF	chr19:19335720-19335870	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr19:19335737-19336190	HepG2	liver:	n/a	chr19:19336087-19336097 chr19:19336084-19336102 chr19:19336090-19336099 chr19:19336085-19336101
15	RAD21	chr19:19335635-19336333	ECC-1	luminal epithelium:	n/a	chr19:19336082-19336101 chr19:19336086-19336096 chr19:19335736-19335746 chr19:19336102-19336112
16	CTCF	chr19:19335615-19336305	K562	blood:	n/a	chr19:19336087-19336097 chr19:19336217-19336227 chr19:19336084-19336102 chr19:19336090-19336099 chr19:19336085-19336101
17	E2F6	chr19:19335597-19336406	H1-hESC	embryonic stem cell:	n/a	chr19:19336100-19336109
18	ZBTB7A	chr19:19335603-19336274	K562	blood:	n/a	chr19:19336101-19336110
19	MAX	chr19:19335593-19336459	A549	lung:	n/a	n/a
20	E2F6	chr19:19335500-19336478	H1-hESC	embryonic stem cell:	n/a	chr19:19336100-19336109
21	MAX	chr19:19335702-19336297	A549	lung:	n/a	n/a
22	RCOR1	chr19:19335624-19336487	K562	blood:	n/a	n/a
23	MAX	chr19:19335563-19336405	HepG2	liver:	n/a	n/a
24	TEAD4	chr19:19335540-19336391	K562	blood:	n/a	n/a
25	MYC	chr19:19335741-19336359	K562	blood:	n/a	n/a
26	RAD21	chr19:19335720-19336272	HepG2	liver:	n/a	chr19:19336082-19336101 chr19:19336086-19336096 chr19:19335736-19335746 chr19:19336102-19336112
27	UBTF	chr19:19335675-19336277	K562	blood:	n/a	n/a
28	GABPA	chr19:19335696-19336140	H1-hESC	embryonic stem cell:	n/a	chr19:19336100-19336109
29	CTCFL	chr19:19335713-19335917	K562	blood:	n/a	n/a
30	MYC	chr19:19335667-19336377	K562	blood:	n/a	n/a
31	CTCF	chr19:19335640-19336484	HCT-116	colon:	n/a	chr19:19336087-19336097 chr19:19336217-19336227 chr19:19336084-19336102 chr19:19336090-19336099 chr19:19336085-19336101
32	YY1	chr19:19335634-19336337	K562	blood:	n/a	chr19:19336098-19336112 chr19:19335772-19335783
33	EGR1	chr19:19335744-19336323	K562	blood:	n/a	chr19:19336095-19336105
34	SIN3A	chr19:19335686-19336348	H1-hESC	embryonic stem cell:	n/a	n/a
35	TCF12	chr19:19335742-19336323	A549	lung:	n/a	n/a
36	MAX	chr19:19335456-19336585	HCT-116	colon:	n/a	n/a
37	CCNT2	chr19:19335727-19336283	K562	blood:	n/a	chr19:19335749-19335758
38	ETS1	chr19:19335748-19336211	K562	blood:	n/a	n/a
39	UBTF	chr19:19335665-19336311	K562	blood:	n/a	n/a
40	MAX	chr19:19335603-19336349	ECC-1	luminal epithelium:	n/a	n/a
41	MAX	chr19:19335670-19336268	K562	blood:	n/a	n/a
42	CTCF	chr19:19335640-19335790	WI-38	lung:	n/a	n/a
43	MAX	chr19:19335660-19336360	K562	blood:	n/a	n/a
44	RAD21	chr19:19335695-19336478	HCT-116	colon:	n/a	chr19:19336462-19336475 chr19:19336082-19336101 chr19:19336086-19336096 chr19:19335736-19335746 chr19:19336380-19336389 chr19:19336102-19336112
45	CBX3	chr19:19335621-19336386	K562	blood:	n/a	n/a
46	RAD21	chr19:19335595-19336389	H1-hESC	embryonic stem cell:	n/a	chr19:19336082-19336101 chr19:19336086-19336096 chr19:19335736-19335746 chr19:19336380-19336389 chr19:19336102-19336112
47	MAX	chr19:19335656-19336335	MCF-7	breast:	n/a	n/a
48	CTCF	chr19:19335711-19336282	K562	blood:	n/a	chr19:19336087-19336097 chr19:19336217-19336227 chr19:19336084-19336102 chr19:19336090-19336099 chr19:19336085-19336101
49	CTCF	chr19:19335611-19336322	K562	blood:	n/a	chr19:19336087-19336097 chr19:19336217-19336227 chr19:19336084-19336102 chr19:19336090-19336099 chr19:19336085-19336101
50	ELF1	chr19:19335708-19336286	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19316362..19318811-chr19:19332954..19335796,2	K562	blood:
2	chr19:19334544..19336643-chr19:19365954..19367462,2	K562	blood:
3	chr19:19330854..19332761-chr19:19335013..19336574,2	K562	blood:
4	chr19:19316312..19318811-chr19:19331949..19335796,3	K562	blood:
5	chr19:19296507..19297414-chr19:19335595..19336460,5	K562	blood:
6	chr19:19256536..19257795-chr19:19335453..19336563,6	K562	blood:
7	chr19:19334243..19337369-chr19:19337755..19340851,3	MCF-7	breast:
8	chr19:19327764..19329892-chr19:19334771..19337455,2	MCF-7	breast:
9	chr19:19309008..19311272-chr19:19335230..19337096,2	MCF-7	breast:
10	chr19:19334594..19337055-chr19:19501477..19503749,2	K562	blood:
11	chr19:19285545..19286491-chr19:19335695..19336550,3	K562	blood:

Variant related genes	Relation type
NCAN	TF binding region
ENSG00000130287	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000254901	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10403859	0.96[EUR][1000 genomes]
rs10406659	0.92[EUR][1000 genomes]
rs10411761	0.96[EUR][1000 genomes]
rs10418279	0.92[EUR][1000 genomes]
rs10424369	0.96[EUR][1000 genomes]
rs11667950	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11668677	0.96[EUR][1000 genomes]
rs11668734	0.96[EUR][1000 genomes]
rs11671527	0.96[EUR][1000 genomes]
rs11672216	0.96[EUR][1000 genomes]
rs13345554	0.96[EUR][1000 genomes]
rs2228600	0.96[EUR][1000 genomes]
rs2283627	0.92[EUR][1000 genomes]
rs28393849	0.92[EUR][1000 genomes]
rs28409009	0.92[EUR][1000 genomes]
rs28446016	0.92[EUR][1000 genomes]
rs28508263	0.92[EUR][1000 genomes]
rs28510494	0.92[EUR][1000 genomes]
rs28541794	0.92[EUR][1000 genomes]
rs28838696	0.92[EUR][1000 genomes]
rs34673002	0.96[EUR][1000 genomes]
rs35583425	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3761080	0.92[EUR][1000 genomes]
rs73922843	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19325200-19344600	Weak transcription	Brain Angular Gyrus	brain
2	chr19:19326400-19338400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr19:19326400-19344200	Strong transcription	Brain Germinal Matrix	brain
4	chr19:19326600-19342800	Weak transcription	Fetal Brain Male	brain
5	chr19:19326800-19344200	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr19:19327000-19336400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:19328400-19344400	Strong transcription	Fetal Brain Female	brain
8	chr19:19330400-19344600	Weak transcription	Brain Anterior Caudate	brain
9	chr19:19335000-19336400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:19335000-19339400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:19335200-19336200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:19335200-19344000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:19335400-19335800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:19335400-19335800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:19335400-19335800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr19:19335400-19335800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr19:19335400-19335800	Enhancers	Esophagus	oesophagus
18	chr19:19335400-19335800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr19:19335400-19336000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:19335400-19336000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr19:19335400-19336200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr19:19335400-19336200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:19335400-19336200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr19:19335400-19336200	Active TSS	Hela-S3	cervix
25	chr19:19335400-19336200	Active TSS	K562	blood
26	chr19:19335400-19336400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr19:19335400-19336400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:19335400-19336600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr19:19335400-19336600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr19:19335400-19336600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr19:19335400-19336600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr19:19335400-19336600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr19:19335400-19336600	Bivalent Enhancer	Placenta	Placenta
34	chr19:19335600-19335800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:19335600-19335800	Bivalent Enhancer	Primary B cells from cord blood	blood
36	chr19:19335600-19335800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr19:19335600-19335800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr19:19335600-19335800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr19:19335600-19335800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:19335600-19335800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
41	chr19:19335600-19335800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:19335600-19335800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr19:19335600-19335800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:19335600-19335800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr19:19335600-19335800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:19335600-19335800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:19335600-19335800	Bivalent Enhancer	Adipose Nuclei	Adipose
48	chr19:19335600-19335800	Weak transcription	Brain Hippocampus Middle	brain
49	chr19:19335600-19335800	Enhancers	Pancreas	Pancrea
50	chr19:19335600-19335800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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