Variant report

Variant	rs7256843
Chromosome Location	chr19:38924172-38924173
allele	A/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	E2F6	chr19:38924127-38924551	K562	blood:	n/a	chr19:38924283-38924292 chr19:38924386-38924395
2	MAX	chr19:38923876-38924509	K562	blood:	n/a	chr19:38924418-38924428
3	YY1	chr19:38923972-38924272	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF143	chr19:38923937-38924277	K562	blood:	n/a	n/a
5	MAX	chr19:38924138-38924406	SK-N-SH	brain:	n/a	n/a
6	CCNT2	chr19:38923960-38924347	K562	blood:	n/a	chr19:38924283-38924292
7	REST	chr19:38924093-38924354	PFSK-1	brain:	n/a	n/a
8	MYC	chr19:38923969-38924417	K562	blood:	n/a	n/a
9	TAF7	chr19:38923967-38924469	H1-hESC	embryonic stem cell:	n/a	n/a
10	ELF1	chr19:38924101-38924370	K562	blood:	n/a	n/a
11	ZBTB7A	chr19:38924056-38924641	K562	blood:	n/a	n/a
12	REST	chr19:38924116-38924472	SK-N-SH	brain:	n/a	n/a
13	REST	chr19:38924124-38924386	K562	blood:	n/a	n/a
14	BHLHE40	chr19:38923982-38924269	K562	blood:	n/a	n/a
15	POLR2A	chr19:38924025-38924409	K562	blood:	n/a	n/a
16	HDAC2	chr19:38923948-38924326	H1-hESC	embryonic stem cell:	n/a	n/a
17	EGR1	chr19:38924140-38924373	K562	blood:	n/a	chr19:38924278-38924291
18	NANOG	chr19:38924051-38924315	H1-hESC	embryonic stem cell:	n/a	n/a
19	REST	chr19:38924036-38924524	HCT-116	colon:	n/a	n/a
20	IRF1	chr19:38924047-38924391	K562	blood:	n/a	chr19:38924282-38924296
21	SPI1	chr19:38924035-38924377	GM12891	blood:	n/a	n/a
22	POLR2A	chr19:38924044-38924608	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr19:38924139-38924336	K562	blood:	n/a	n/a
24	CBX3	chr19:38923902-38924215	K562	blood:	n/a	n/a
25	TBP	chr19:38923975-38924410	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr19:38924003-38924374	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF384	chr19:38924076-38924189	K562	blood:	n/a	n/a
28	REST	chr19:38924082-38924384	U87	brain:	n/a	n/a
29	MAX	chr19:38924129-38924362	K562	blood:	n/a	n/a
30	CTCF	chr19:38924160-38924360	K562	blood:	n/a	n/a
31	REST	chr19:38924139-38924365	SK-N-SH	brain:	n/a	n/a
32	CEBPB	chr19:38924032-38924232	K562	blood:	n/a	n/a
33	SP1	chr19:38924036-38924352	H1-hESC	embryonic stem cell:	n/a	chr19:38924284-38924293 chr19:38924283-38924292 chr19:38924284-38924293 chr19:38924282-38924294 chr19:38924171-38924182 chr19:38924282-38924294
34	TBL1XR1	chr19:38924057-38924186	K562	blood:	n/a	n/a
35	REST	chr19:38924078-38924392	GM12878	blood:	n/a	n/a
36	REST	chr19:38924116-38924411	HCT-116	colon:	n/a	n/a
37	SPI1	chr19:38924163-38924360	GM12878	blood:	n/a	n/a
38	HEY1	chr19:38923965-38924391	K562	blood:	n/a	n/a
39	REST	chr19:38924017-38924568	K562	blood:	n/a	n/a
40	TBP	chr19:38924091-38924410	K562	blood:	n/a	n/a
41	YY1	chr19:38923990-38924385	K562	blood:	n/a	chr19:38924283-38924292
42	REST	chr19:38923943-38924363	A549	lung:	n/a	n/a
43	REST	chr19:38924108-38924356	PFSK-1	brain:	n/a	n/a
44	MYC	chr19:38924126-38924176	MCF-7	breast:	n/a	n/a
45	EP300	chr19:38923972-38924332	K562	blood:	n/a	n/a
46	SIN3AK20	chr19:38924069-38924376	H1-hESC	embryonic stem cell:	n/a	n/a
47	BACH1	chr19:38924000-38924297	H1-hESC	embryonic stem cell:	n/a	n/a
48	REST	chr19:38923990-38924370	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAF1	chr19:38924086-38924361	H1-hESC	embryonic stem cell:	n/a	n/a
50	SP1	chr19:38923976-38924389	H1-hESC	embryonic stem cell:	n/a	chr19:38924284-38924293 chr19:38924283-38924292 chr19:38924284-38924293 chr19:38924282-38924294 chr19:38924171-38924182 chr19:38924282-38924294

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38916755..38918464-chr19:38922466..38924242,2	K562	blood:

Variant related genes	Relation type
RYR1	TF binding region
ENSG00000171777	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10406669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10413428	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28859893	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58468353	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription 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	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1055309	chr19:38896244-38945851	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
9	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1065803	chr19:38903099-38945851	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv1066138	chr19:38904072-38949729	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv833824	chr19:38914618-39084758	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	esv1816081	chr19:38919971-39050479	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38920400-38924800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:38920600-38924400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr19:38920600-38924600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr19:38922200-38924400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:38923800-38924200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr19:38923800-38924200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr19:38923800-38924200	Flanking Active TSS	K562	blood
8	chr19:38923800-38924600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr19:38923800-38924600	Bivalent Enhancer	Placenta	Placenta
10	chr19:38923800-38925000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:38923800-38926000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:38923800-38926200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr19:38924000-38924200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
14	chr19:38924000-38924200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr19:38924000-38924200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:38924000-38924200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr19:38924000-38924200	Active TSS	Brain Hippocampus Middle	brain
18	chr19:38924000-38924200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
19	chr19:38924000-38924200	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr19:38924000-38924200	Bivalent Enhancer	Fetal Thymus	thymus
21	chr19:38924000-38924400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr19:38924000-38924400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
23	chr19:38924000-38924400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr19:38924000-38924400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:38924000-38924400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:38924000-38924400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:38924000-38924400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:38924000-38924400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:38924000-38924400	Enhancers	Spleen	Spleen
30	chr19:38924000-38924600	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr19:38924000-38924600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr19:38924000-38924600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:38924000-38924600	Enhancers	Gastric	stomach
34	chr19:38924000-38924600	ZNF genes & repeats	Right Atrium	heart
35	chr19:38924000-38924600	Enhancers	GM12878-XiMat	blood
36	chr19:38924000-38924600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
37	chr19:38924000-38924800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:38924000-38924800	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr19:38924000-38924800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr19:38924000-38924800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr19:38924000-38924800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr19:38924000-38925000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr19:38924000-38925000	Active TSS	HSMM	muscle
44	chr19:38924000-38925200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:38924000-38925200	Active TSS	Psoas Muscle	Psoas
46	chr19:38924000-38925400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
47	chr19:38924000-38925400	Bivalent Enhancer	A549	lung
48	chr19:38924000-38925600	Active TSS	H9 Cell Line	embryonic stem cell
49	chr19:38924000-38925600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:38924000-38925600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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