Variant report

Variant	rs7249554
Chromosome Location	chr19:41698690-41698691
allele	A/G
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	UBTF	chr19:41698614-41699137	K562	blood:	n/a	n/a
2	REST	chr19:41697933-41700081	A549	lung:	n/a	chr19:41699478-41699487 chr19:41699900-41699913 chr19:41699135-41699148
3	GATA1	chr19:41698500-41699362	PBDE	blood:	n/a	chr19:41699012-41699029 chr19:41698557-41698566 chr19:41699021-41699030
4	YY1	chr19:41698143-41699414	A549	lung:	n/a	chr19:41698986-41698997 chr19:41699013-41699022 chr19:41698907-41698921 chr19:41698985-41698994
5	FOXA2	chr19:41698280-41699274	A549	lung:	n/a	chr19:41698871-41698883
6	POLR2A	chr19:41698466-41699470	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIX5	chr19:41697779-41699137	A549	lung:	n/a	n/a
8	MAX	chr19:41697997-41700048	A549	lung:	n/a	chr19:41699444-41699454 chr19:41699039-41699049
9	ELF1	chr19:41698037-41699301	A549	lung:	n/a	chr19:41699010-41699019 chr19:41698858-41698869 chr19:41698985-41698994
10	TCF12	chr19:41698371-41699268	A549	lung:	n/a	chr19:41698874-41698883
11	SIN3AK20	chr19:41698184-41699272	A549	lung:	n/a	n/a
12	POLR2A	chr19:41698303-41699451	PFSK-1	brain:	n/a	n/a
13	BCL3	chr19:41698123-41699352	A549	lung:	n/a	chr19:41698192-41698201 chr19:41699120-41699133 chr19:41698986-41698995 chr19:41698903-41698911
14	BCL3	chr19:41697854-41699470	A549	lung:	n/a	chr19:41698192-41698201 chr19:41699120-41699133 chr19:41698986-41698995 chr19:41698903-41698911
15	FOXA2	chr19:41698441-41699519	A549	lung:	n/a	chr19:41698871-41698883
16	MAX	chr19:41698215-41699505	A549	lung:	n/a	chr19:41699444-41699454 chr19:41699039-41699049
17	POLR2A	chr19:41698171-41699526	PFSK-1	brain:	n/a	n/a
18	SP1	chr19:41698284-41699889	A549	lung:	n/a	chr19:41699061-41699070 chr19:41699060-41699072 chr19:41699062-41699071 chr19:41699061-41699070 chr19:41699469-41699476 chr19:41699009-41699022 chr19:41699034-41699048 chr19:41699041-41699055 chr19:41699491-41699505 chr19:41699060-41699071 chr19:41699061-41699075 chr19:41699439-41699453 chr19:41699060-41699072
19	TAF1	chr19:41698353-41698692	PFSK-1	brain:	n/a	n/a
20	SIN3AK20	chr19:41698457-41698989	PFSK-1	brain:	n/a	n/a
21	MAX	chr19:41698669-41698934	Hela-S3	cervix:	n/a	n/a
22	EP300	chr19:41698123-41699531	A549	lung:	n/a	chr19:41699122-41699138 chr19:41698874-41698884 chr19:41699126-41699142
23	CREB1	chr19:41698678-41699431	A549	lung:	n/a	n/a
24	POLR2A	chr19:41698653-41699375	A549	lung:	n/a	n/a
25	CEBPB	chr19:41698561-41699004	A549	lung:	n/a	n/a
26	JUND	chr19:41698331-41699440	A549	lung:	n/a	chr19:41698559-41698567 chr19:41698559-41698566 chr19:41698966-41698973 chr19:41699063-41699072
27	CBX3	chr19:41698667-41698955	K562	blood:	n/a	chr19:41698711-41698722
28	HA-E2F1	chr19:41698564-41699225	MCF-7	breast:	n/a	chr19:41699013-41699022 chr19:41699011-41699021
29	NR2F2	chr19:41698340-41699128	MCF-7	breast:	n/a	n/a
30	TCF12	chr19:41697836-41700018	A549	lung:	n/a	chr19:41698874-41698883
31	USF1	chr19:41698317-41699138	A549	lung:	n/a	n/a
32	NR2F2	chr19:41698547-41699147	K562	blood:	n/a	n/a
33	POLR2A	chr19:41698690-41698847	A549	lung:	n/a	n/a
34	FOSL2	chr19:41698008-41699294	A549	lung:	n/a	chr19:41698559-41698567 chr19:41698559-41698566 chr19:41698966-41698973 chr19:41699063-41699072
35	REST	chr19:41698135-41699310	A549	lung:	n/a	chr19:41699135-41699148
36	FOSL2	chr19:41698382-41698774	A549	lung:	n/a	chr19:41698559-41698567 chr19:41698559-41698566
37	EP300	chr19:41698154-41699234	A549	lung:	n/a	chr19:41699122-41699138 chr19:41698874-41698884 chr19:41699126-41699142
38	ETS1	chr19:41698256-41699355	A549	lung:	n/a	chr19:41698986-41698997 chr19:41698983-41698994 chr19:41699011-41699022
39	RAD21	chr19:41698444-41698913	Hela-S3	cervix:	n/a	n/a
40	SP1	chr19:41698124-41699437	A549	lung:	n/a	chr19:41699061-41699070 chr19:41699060-41699072 chr19:41699062-41699071 chr19:41699061-41699070 chr19:41699009-41699022 chr19:41699034-41699048 chr19:41699041-41699055 chr19:41699060-41699071 chr19:41699061-41699075 chr19:41699060-41699072
41	CEBPB	chr19:41698400-41699151	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr19:41698609-41698919	Hela-S3	cervix:	n/a	n/a
43	RCOR1	chr19:41698456-41698938	Hela-S3	cervix:	n/a	n/a
44	SIN3A	chr19:41698603-41700323	H1-hESC	embryonic stem cell:	n/a	chr19:41699478-41699491 chr19:41699126-41699139
45	SMC3	chr19:41698528-41699288	Hela-S3	cervix:	n/a	chr19:41699035-41699045
46	SIN3AK20	chr19:41698137-41698826	A549	lung:	n/a	n/a
47	E2F6	chr19:41698564-41699443	A549	lung:	n/a	chr19:41699013-41699022 chr19:41699011-41699021

No.	Distal block	Cell Line	Cell type
1	chr19:41698406..41703429-chr19:41707121..41711829,4	K562	blood:
2	chr19:41697323..41700714-chr19:41769063..41770894,3	K562	blood:
3	chr19:41698019..41700083-chr19:41767122..41769558,2	K562	blood:

Variant related genes	Relation type
RN7SL718P	TF binding region
CYP2S1	TF binding region
ENSG00000167600	Chromatin interaction
ENSG00000105323	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10414612	1.00[TSI][hapmap]
rs16959007	1.00[TSI][hapmap]
rs16974893	1.00[CEU][hapmap]
rs16975124	1.00[TSI][hapmap]
rs16975164	1.00[TSI][hapmap]
rs2217656	1.00[TSI][hapmap]
rs7250597	1.00[CEU][hapmap]
rs747857	1.00[TSI][hapmap]
rs998468	1.00[TSI][hapmap]

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	nsv911767	chr19:41649516-41716271	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523521	chr19:41680424-41702426	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41695800-41698800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:41695800-41698800	Weak transcription	Pancreas	Pancrea
3	chr19:41698000-41698800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:41698000-41698800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:41698000-41698800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
6	chr19:41698200-41698800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:41698200-41698800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
8	chr19:41698200-41698800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:41698200-41698800	Enhancers	Gastric	stomach
10	chr19:41698200-41699000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:41698200-41699200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr19:41698200-41699200	Bivalent Enhancer	Fetal Thymus	thymus
13	chr19:41698200-41699600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:41698200-41699800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:41698200-41700200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr19:41698200-41700200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr19:41698200-41700600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr19:41698400-41698800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:41698400-41698800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:41698400-41698800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr19:41698400-41698800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:41698400-41698800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:41698400-41698800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
24	chr19:41698400-41698800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr19:41698400-41698800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr19:41698400-41698800	Flanking Bivalent TSS/Enh	HepG2	liver
27	chr19:41698400-41698800	Bivalent Enhancer	NH-A	brain
28	chr19:41698400-41698800	Flanking Active TSS	NHEK	skin
29	chr19:41698400-41699000	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr19:41698400-41699000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr19:41698400-41699200	Bivalent Enhancer	Liver	Liver
32	chr19:41698400-41699600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:41698400-41699600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:41698400-41699600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr19:41698400-41699800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:41698400-41700000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:41698400-41700000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
38	chr19:41698400-41700400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:41698400-41700600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr19:41698600-41698800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr19:41698600-41698800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:41698600-41698800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
43	chr19:41698600-41698800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
44	chr19:41698600-41698800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:41698600-41698800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
46	chr19:41698600-41698800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr19:41698600-41698800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:41698600-41698800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
49	chr19:41698600-41698800	Bivalent Enhancer	Brain Hippocampus Middle	brain
50	chr19:41698600-41698800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum

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