Variant report

Variant	rs57218449
Chromosome Location	chr4:151797317-151797318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151796077..151798046-chr4:151803674..151805775,2	K562	blood:
2	chr4:151796468..151798737-chr4:152018888..152021048,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145425	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10008077	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148641	0.82[AFR][1000 genomes]
rs1148642	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148646	0.87[AFR][1000 genomes]
rs1201202	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1201208	0.93[AFR][1000 genomes]
rs1273329	0.85[AFR][1000 genomes]
rs1583188	0.87[AFR][1000 genomes]
rs17027030	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027034	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027100	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027158	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17027197	0.86[AFR][1000 genomes]
rs17440394	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122920	1.00[ASN][1000 genomes]
rs57518605	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58328072	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59572961	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60102523	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60391819	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61258128	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61371689	1.00[ASN][1000 genomes]
rs61668839	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344564	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344565	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344567	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344568	0.87[EUR][1000 genomes]
rs62344569	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344571	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344572	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344573	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344578	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344579	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344582	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344596	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344597	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344598	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344602	0.85[AFR][1000 genomes]
rs62344605	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62344619	0.82[AFR][1000 genomes]
rs62344646	1.00[ASN][1000 genomes]
rs62346260	1.00[ASN][1000 genomes]
rs62346265	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346268	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346294	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346295	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346297	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346301	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346303	1.00[ASN][1000 genomes]
rs62346304	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346305	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346306	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346307	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346308	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346309	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346311	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346337	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346338	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346341	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346345	0.87[EUR][1000 genomes]
rs62346346	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346348	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346349	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346350	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62346351	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6535743	1.00[ASN][1000 genomes]
rs6535744	1.00[ASN][1000 genomes]
rs6819868	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs716474	1.00[ASN][1000 genomes]
rs73859222	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73859291	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73859295	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7665652	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677186	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs958516	0.87[EUR][1000 genomes]
rs971640	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv530159	chr4:151624865-152203910	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1018404	chr4:151664438-152067409	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1017850	chr4:151664438-152071876	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	esv2763837	chr4:151664438-152071888	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv870257	chr4:151665349-152072867	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1015387	chr4:151673751-152071876	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv526976	chr4:151675819-152055073	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv1025077	chr4:151682266-152035733	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	nsv537303	chr4:151682266-152035733	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv949066	chr4:151693149-152069566	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv949002	chr4:151693149-152095109	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
16	nsv948719	chr4:151693149-152161625	Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
17	nsv1031720	chr4:151708502-152071876	Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
18	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
19	nsv1031516	chr4:151718614-152065644	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv537304	chr4:151718614-152065644	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
21	nsv1022884	chr4:151718814-152065505	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
22	nsv537305	chr4:151718814-152065505	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
23	nsv880576	chr4:151751369-151936149	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
24	nsv595688	chr4:151776717-151804857	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv595689	chr4:151788955-152015704	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv595690	chr4:151788955-152109552	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151749800-151806800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:151750200-151824200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:151763800-151823800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:151767600-151806600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:151771000-151797400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:151772600-151806400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:151773600-151797400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:151773600-151813000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:151773600-151813400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr4:151773800-151800800	Weak transcription	Hela-S3	cervix
11	chr4:151773800-151813800	Weak transcription	Fetal Kidney	kidney
12	chr4:151773800-151824600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:151774000-151801200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:151774000-151805200	Weak transcription	Dnd41	blood
15	chr4:151774000-151805800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:151774000-151820200	Weak transcription	Adipose Nuclei	Adipose
17	chr4:151774000-151820400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:151774000-151838400	Weak transcription	HepG2	liver
19	chr4:151774200-151813600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:151774600-151811400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:151781600-151797600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:151784400-151810600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:151788200-151801400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:151789000-151801400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:151789800-151804200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:151792600-151801000	Weak transcription	Liver	Liver
27	chr4:151792600-151802400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:151792800-151801000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:151792800-151801200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:151792800-151819800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:151793400-151801200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:151793400-151805200	Weak transcription	Osteobl	bone
33	chr4:151793600-151824200	Weak transcription	Esophagus	oesophagus
34	chr4:151794600-151797400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:151795200-151797400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:151795200-151813400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:151795400-151797400	Strong transcription	Fetal Intestine Large	intestine
38	chr4:151795400-151799200	Strong transcription	Primary T cells from cord blood	blood
39	chr4:151795600-151805200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:151795800-151797400	Weak transcription	Fetal Lung	lung
41	chr4:151796000-151798000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:151796000-151804200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr4:151796000-151806200	Weak transcription	HMEC	breast
44	chr4:151796000-151808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:151796000-151813400	Weak transcription	Brain Angular Gyrus	brain
46	chr4:151796000-151820200	Weak transcription	Ovary	ovary
47	chr4:151796000-151820400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:151796000-151845000	Weak transcription	Fetal Heart	heart
49	chr4:151796000-151846000	Weak transcription	Aorta	Aorta
50	chr4:151796000-151847200	Weak transcription	Brain Cingulate Gyrus	brain

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