Variant report

Variant	rs57106389
Chromosome Location	chr4:1317730-1317731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1310028..1312801-chr4:1316680..1318602,2	K562	blood:
2	chr4:1317445..1321964-chr4:1322066..1326605,8	MCF-7	breast:
3	chr4:1240559..1242857-chr4:1315029..1317757,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090316	Chromatin interaction
ENSG00000159692	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11932230	1.00[EUR][1000 genomes]
rs1250087	1.00[EUR][1000 genomes]
rs1250127	1.00[EUR][1000 genomes]
rs1272043	1.00[EUR][1000 genomes]
rs1680077	1.00[EUR][1000 genomes]
rs2127909	1.00[EUR][1000 genomes]
rs4246689	1.00[EUR][1000 genomes]
rs4974635	1.00[EUR][1000 genomes]
rs4974645	1.00[EUR][1000 genomes]
rs58168130	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61053739	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6836809	1.00[EUR][1000 genomes]
rs6836952	1.00[EUR][1000 genomes]
rs6851640	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7659524	1.00[EUR][1000 genomes]
rs7676912	1.00[EUR][1000 genomes]
rs900031	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv878328	chr4:1141573-1990425	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
5	nsv878330	chr4:1147407-1523930	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv461152	chr4:1159680-1415698	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS 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	70 gene(s)	inside rSNPs	diseases
7	nsv593278	chr4:1159680-1415698	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
8	nsv997971	chr4:1191256-1518521	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
9	nsv461155	chr4:1203265-1352685	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
10	nsv593281	chr4:1203265-1352685	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
11	nsv1002097	chr4:1212573-1320086	Strong transcription Active TSS Weak transcription Enhancers Flanking 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	51 gene(s)	inside rSNPs	diseases
12	nsv536986	chr4:1212573-1320086	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv593298	chr4:1244267-1342521	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
14	nsv878338	chr4:1277826-1358449	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer 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	34 gene(s)	inside rSNPs	diseases
15	nsv878339	chr4:1277826-1363886	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	nsv878340	chr4:1277826-1386570	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv878341	chr4:1277826-1391400	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
18	nsv1002635	chr4:1282603-1402761	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
19	nsv878342	chr4:1291337-1363886	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
20	nsv878343	chr4:1291337-1391400	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
21	nsv878344	chr4:1291337-1414684	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
22	nsv878345	chr4:1291337-1563920	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
23	nsv461157	chr4:1300077-1352685	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
24	nsv593301	chr4:1300077-1352685	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
25	nsv878346	chr4:1300077-1363886	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
26	nsv878347	chr4:1300077-1866358	Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
27	nsv878348	chr4:1305269-1386570	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
28	esv1833544	chr4:1305962-1327941	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
29	esv1794294	chr4:1307119-1817474	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
30	nsv980177	chr4:1317488-1323519	Genic enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1303600-1339400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:1305000-1327200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:1305200-1326600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:1305200-1330200	Weak transcription	Fetal Heart	heart
5	chr4:1306000-1323400	Strong transcription	Fetal Muscle Trunk	muscle
6	chr4:1306200-1322200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:1308800-1321200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:1309200-1330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:1310600-1321400	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr4:1310800-1321800	Strong transcription	Primary T cells from cord blood	blood
11	chr4:1310800-1323200	Weak transcription	Psoas Muscle	Psoas
12	chr4:1311200-1321000	Weak transcription	Small Intestine	intestine
13	chr4:1311800-1321000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:1311800-1322400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:1312200-1321800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr4:1313000-1318800	Weak transcription	Aorta	Aorta
17	chr4:1313400-1320800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:1313600-1335600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:1314800-1318200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:1314800-1323200	Strong transcription	Fetal Muscle Leg	muscle
21	chr4:1314800-1328200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:1314800-1335200	Strong transcription	Dnd41	blood
23	chr4:1315000-1325000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr4:1315000-1335600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:1315200-1317800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:1315200-1317800	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr4:1315200-1318800	Enhancers	HMEC	breast
28	chr4:1315200-1319200	Strong transcription	HepG2	liver
29	chr4:1315200-1322600	Strong transcription	Esophagus	oesophagus
30	chr4:1315200-1323400	Strong transcription	Placenta	Placenta
31	chr4:1315200-1324000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:1315200-1335400	Strong transcription	Fetal Brain Female	brain
33	chr4:1315200-1335600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:1315200-1335600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:1315200-1335600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:1315400-1318000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:1315400-1319400	Strong transcription	Spleen	Spleen
38	chr4:1315400-1320600	Strong transcription	Thymus	Thymus
39	chr4:1315400-1321800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:1315400-1322000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:1315400-1322000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr4:1315400-1322400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:1315400-1323000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:1315400-1323000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr4:1315400-1325200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:1315400-1328400	Strong transcription	Adipose Nuclei	Adipose
47	chr4:1315400-1329400	Strong transcription	Colonic Mucosa	Colon
48	chr4:1315400-1331800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:1315400-1332200	Strong transcription	Fetal Intestine Small	intestine
50	chr4:1315400-1335200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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