Variant report

Variant	rs193162484
Chromosome Location	chr6:131521210-131521211
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	CTCF	chr6:131520773-131521278	GM12878	blood:	n/a	chr6:131520992-131521013 chr6:131521064-131521082
2	POU2F2	chr6:131520785-131521264	GM12891	blood:	n/a	chr6:131521041-131521051 chr6:131521040-131521054 chr6:131521043-131521050
3	RAD21	chr6:131520787-131521263	A549	lung:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
4	RAD21	chr6:131520674-131521412	MCF-7	breast:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
5	RELA	chr6:131520827-131521268	GM19099	blood:	n/a	n/a
6	RAD21	chr6:131520716-131521212	HepG2	liver:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
7	FOXP2	chr6:131520819-131521270	SK-N-MC	brain:	n/a	n/a
8	RUNX3	chr6:131520724-131521313	GM12878	blood:	n/a	n/a
9	MTA3	chr6:131520732-131521411	GM12878	blood:	n/a	n/a
10	POU2F2	chr6:131520741-131521272	GM12878	blood:	n/a	chr6:131521041-131521051 chr6:131521040-131521054 chr6:131521043-131521050
11	CTCF	chr6:131520699-131521363	A549	lung:	n/a	chr6:131520992-131521013 chr6:131521064-131521082
12	CTCF	chr6:131520789-131521242	H1-hESC	embryonic stem cell:	n/a	chr6:131520992-131521013 chr6:131521064-131521082
13	CTCF	chr6:131520717-131521234	MCF-7	breast:	n/a	chr6:131520992-131521013 chr6:131521064-131521082
14	RAD21	chr6:131520854-131521244	GM12878	blood:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
15	RAD21	chr6:131520625-131521363	SK-N-SH	brain:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
16	SMC3	chr6:131520789-131521253	GM12878	blood:	n/a	chr6:131521066-131521080
17	RAD21	chr6:131520794-131521220	H1-hESC	embryonic stem cell:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
18	BCLAF1	chr6:131520780-131521237	GM12878	blood:	n/a	n/a
19	MAX	chr6:131520888-131521280	GM12878	blood:	n/a	n/a
20	MEF2A	chr6:131520787-131521296	GM12878	blood:	n/a	n/a
21	RAD21	chr6:131520725-131521245	MCF-7	breast:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
22	IRF4	chr6:131520750-131521261	GM12878	blood:	n/a	n/a
23	FOXM1	chr6:131520772-131521245	GM12878	blood:	n/a	n/a
24	CTCF	chr6:131520731-131521294	K562	blood:	n/a	chr6:131520992-131521013 chr6:131521064-131521082
25	MAZ	chr6:131520859-131521235	GM12878	blood:	n/a	n/a
26	RCOR1	chr6:131520842-131521272	GM12878	blood:	n/a	n/a
27	ATF2	chr6:131520738-131521260	GM12878	blood:	n/a	n/a
28	CTCF	chr6:131521200-131521350	AoAF	blood vessel:	n/a	n/a
29	RAD21	chr6:131520823-131521215	HepG2	liver:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
30	RAD21	chr6:131520844-131521264	A549	lung:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
31	ETS1	chr6:131520877-131521235	GM12878	blood:	n/a	n/a
32	RCOR1	chr6:131520879-131521298	HepG2	liver:	n/a	n/a
33	SPI1	chr6:131520906-131521215	GM12878	blood:	n/a	chr6:131521067-131521074
34	ELK1	chr6:131520899-131521214	GM12878	blood:	n/a	n/a
35	EP300	chr6:131520947-131521339	GM12878	blood:	n/a	n/a
36	SMC3	chr6:131520789-131521214	Hela-S3	cervix:	n/a	chr6:131521066-131521080
37	RAD21	chr6:131520706-131521306	ECC-1	luminal epithelium:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
38	EBF1	chr6:131520950-131521212	GM12878	blood:	n/a	n/a
39	STAT3	chr6:131520880-131521227	GM12878	blood:	n/a	n/a
40	CEBPB	chr6:131520756-131521212	MCF-7	breast:	n/a	n/a
41	RAD21	chr6:131520760-131521244	SK-N-SH_RA	brain:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
42	SMC3	chr6:131520643-131521401	SK-N-SH	brain:	n/a	chr6:131521066-131521080
43	RAD21	chr6:131520800-131521217	H1-hESC	embryonic stem cell:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
44	SPI1	chr6:131520843-131521494	HL-60	blood:	n/a	chr6:131521067-131521074
45	CTCF	chr6:131520688-131521216	Spleen_OC	spleen:	n/a	chr6:131520992-131521013 chr6:131521064-131521082
46	RAD21	chr6:131520714-131521211	HCT-116	colon:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
47	ZNF143	chr6:131520820-131521218	GM12878	blood:	n/a	n/a
48	RAD21	chr6:131520753-131521294	HCT-116	colon:	n/a	chr6:131520991-131521010 chr6:131521062-131521081 chr6:131520992-131521006
49	EP300	chr6:131520794-131521312	GM12878	blood:	n/a	n/a
50	MEF2C	chr6:131520842-131521270	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
AKAP7	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv886665	chr6:131518894-131611309	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv830808	chr6:131521115-131735320	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131488200-131534800	Weak transcription	Gastric	stomach
2	chr6:131505000-131521800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:131505200-131522600	Weak transcription	HSMMtube	muscle
4	chr6:131505800-131534600	Weak transcription	Brain Substantia Nigra	brain
5	chr6:131505800-131534800	Weak transcription	Pancreas	Pancrea
6	chr6:131506600-131523800	Weak transcription	HepG2	liver
7	chr6:131506600-131524000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:131506600-131529800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:131506600-131532000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:131506800-131551800	Weak transcription	Ovary	ovary
11	chr6:131510400-131534800	Weak transcription	Small Intestine	intestine
12	chr6:131513000-131522600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:131513000-131523000	Weak transcription	Placenta	Placenta
14	chr6:131513200-131526400	Weak transcription	Fetal Intestine Small	intestine
15	chr6:131513200-131536400	Weak transcription	Esophagus	oesophagus
16	chr6:131514400-131529800	Weak transcription	Brain Germinal Matrix	brain
17	chr6:131514400-131541400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:131518200-131525600	Weak transcription	Fetal Brain Male	brain
19	chr6:131518200-131531800	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:131518400-131522600	Enhancers	Primary hematopoietic stem cells	blood
21	chr6:131518800-131534600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:131519200-131522600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:131520000-131522400	Strong transcription	Brain Anterior Caudate	brain
24	chr6:131520200-131521600	Strong transcription	Adipose Nuclei	Adipose
25	chr6:131520400-131521800	Strong transcription	Liver	Liver
26	chr6:131520600-131521400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:131520600-131521400	Strong transcription	Left Ventricle	heart
28	chr6:131520600-131521400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:131520600-131521600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr6:131520600-131521600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:131520600-131521600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:131520600-131521600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:131520600-131521600	Strong transcription	Fetal Muscle Leg	muscle
34	chr6:131520600-131522400	Strong transcription	Brain Hippocampus Middle	brain
35	chr6:131520600-131522600	Strong transcription	Fetal Stomach	stomach
36	chr6:131520800-131521400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:131520800-131521600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:131520800-131521600	Strong transcription	Aorta	Aorta
39	chr6:131520800-131521600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr6:131520800-131521600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:131520800-131521600	Genic enhancers	Right Ventricle	heart
42	chr6:131520800-131521800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr6:131520800-131522000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr6:131520800-131522200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr6:131520800-131522400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:131520800-131522400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr6:131520800-131522400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr6:131520800-131522600	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr6:131520800-131522600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr6:131521000-131521400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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