Variant report

Variant	rs12205779
Chromosome Location	chr6:167364843-167364844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:191)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:191 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr6:167364512-167365163	K562	blood:	n/a	n/a
2	CTCF	chr6:167364793-167365163	GM19239	blood:	n/a	n/a
3	MYC	chr6:167364470-167365056	K562	blood:	n/a	n/a
4	PAX5	chr6:167364656-167365107	GM12892	blood:	n/a	n/a
5	ELF1	chr6:167364358-167365077	GM12878	blood:	n/a	n/a
6	MTA3	chr6:167364608-167365183	GM12878	blood:	n/a	n/a
7	USF1	chr6:167364354-167365039	K562	blood:	n/a	chr6:167364600-167364611
8	ZNF384	chr6:167364747-167365023	GM12878	blood:	n/a	n/a
9	SP1	chr6:167364482-167365204	GM12878	blood:	n/a	n/a
10	FOSL2	chr6:167364344-167365157	HepG2	liver:	n/a	chr6:167364606-167364617 chr6:167364575-167364586
11	POLR2A	chr6:167363349-167365201	GM12878	blood:	n/a	n/a
12	TBP	chr6:167364640-167365111	K562	blood:	n/a	n/a
13	RCOR1	chr6:167364434-167365132	K562	blood:	n/a	n/a
14	TEAD4	chr6:167364703-167365169	K562	blood:	n/a	n/a
15	YY1	chr6:167364787-167365095	H1-hESC	embryonic stem cell:	n/a	n/a
16	NFIC	chr6:167364503-167365181	GM12878	blood:	n/a	n/a
17	PAX5	chr6:167364628-167365164	GM12891	blood:	n/a	n/a
18	JUND	chr6:167364189-167365205	K562	blood:	n/a	n/a
19	PML	chr6:167364382-167365204	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:167363141-167365064	GM19193	blood:	n/a	n/a
21	JUN	chr6:167364049-167365140	K562	blood:	n/a	n/a
22	TAL1	chr6:167364814-167365016	K562	blood:	n/a	n/a
23	CTCF	chr6:167364792-167365229	K562	blood:	n/a	n/a
24	ZC3H11A	chr6:167364621-167365097	K562	blood:	n/a	n/a
25	TBP	chr6:167364592-167365089	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:167364737-167365019	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:167363901-167365113	GM12891	blood:	n/a	n/a
28	FOXM1	chr6:167363550-167365213	GM12878	blood:	n/a	n/a
29	ZNF143	chr6:167364515-167365228	GM12878	blood:	n/a	n/a
30	ATF1	chr6:167364441-167365172	K562	blood:	n/a	n/a
31	BCL11A	chr6:167364668-167365155	GM12878	blood:	n/a	n/a
32	BCL3	chr6:167364471-167365127	GM12878	blood:	n/a	n/a
33	NR2F2	chr6:167364441-167365180	K562	blood:	n/a	n/a
34	WRNIP1	chr6:167364685-167365089	GM12878	blood:	n/a	n/a
35	CTCF	chr6:167364823-167365184	GM19238	blood:	n/a	n/a
36	IRF4	chr6:167364369-167365246	GM12878	blood:	n/a	n/a
37	TBL1XR1	chr6:167364774-167365016	K562	blood:	n/a	n/a
38	CEBPD	chr6:167364377-167365103	K562	blood:	n/a	n/a
39	STAT1	chr6:167364496-167365113	GM12878	blood:	n/a	n/a
40	IRF1	chr6:167364513-167365165	K562	blood:	n/a	n/a
41	RAD21	chr6:167364786-167365098	MCF-7	breast:	n/a	n/a
42	GATA2	chr6:167364434-167364952	K562	blood:	n/a	n/a
43	BCLAF1	chr6:167364453-167365197	GM12878	blood:	n/a	n/a
44	YY1	chr6:167364423-167365133	GM12878	blood:	n/a	n/a
45	YY1	chr6:167364827-167365121	HepG2	liver:	n/a	n/a
46	FOXM1	chr6:167363688-167365268	GM12878	blood:	n/a	n/a
47	HEY1	chr6:167363848-167365006	HepG2	liver:	n/a	n/a
48	SPI1	chr6:167364695-167365164	GM12878	blood:	n/a	n/a
49	NR2F2	chr6:167364374-167365221	K562	blood:	n/a	n/a
50	USF2	chr6:167364449-167365093	GM12878	blood:	n/a	chr6:167364600-167364611

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:167361983..167365004-chr6:167367480..167371949,7	MCF-7	breast:
2	chr6:167362668..167365438-chr6:167411450..167414365,2	MCF-7	breast:
3	chr6:167353412..167356832-chr6:167362421..167365420,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197146	TF binding region
ENSG00000227598	Chromatin interaction
ENSG00000213066	Chromatin interaction
ENSG00000249141	Chromatin interaction
ENSG00000026297	Chromatin interaction
ENSG00000272980	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10946197	1.00[ASN][1000 genomes]
rs12197030	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12199182	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12203820	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13220568	1.00[ASN][1000 genomes]
rs2236311	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55843050	1.00[ASN][1000 genomes]
rs62436419	1.00[ASN][1000 genomes]
rs62436761	1.00[ASN][1000 genomes]
rs62438869	1.00[ASN][1000 genomes]
rs71571466	1.00[ASN][1000 genomes]
rs9457237	1.00[ASN][1000 genomes]
rs9457243	1.00[ASN][1000 genomes]
rs9459809	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv1034359	chr6:167359643-167384714	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167341000-167368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:167341200-167368800	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:167342400-167368600	Weak transcription	Fetal Heart	heart
4	chr6:167344200-167368600	Weak transcription	Right Atrium	heart
5	chr6:167350600-167366400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:167350600-167367600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:167352200-167368800	Weak transcription	Fetal Kidney	kidney
8	chr6:167353800-167366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:167354600-167368800	Weak transcription	HSMM	muscle
10	chr6:167354600-167369000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:167354600-167369000	Weak transcription	A549	lung
12	chr6:167356400-167366800	Strong transcription	Fetal Intestine Small	intestine
13	chr6:167359200-167365400	Strong transcription	Primary hematopoietic stem cells	blood
14	chr6:167360000-167368800	Weak transcription	Fetal Lung	lung
15	chr6:167360600-167368800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:167360600-167368800	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:167360600-167369000	Weak transcription	Osteobl	bone
18	chr6:167361200-167366200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:167361200-167369000	Weak transcription	Ovary	ovary
20	chr6:167361200-167369200	Weak transcription	Aorta	Aorta
21	chr6:167361800-167368600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:167361800-167369000	Weak transcription	Psoas Muscle	Psoas
23	chr6:167362200-167365800	Genic enhancers	HepG2	liver
24	chr6:167362200-167368800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:167362600-167365400	Enhancers	Placenta	Placenta
26	chr6:167363000-167366000	Genic enhancers	Fetal Thymus	thymus
27	chr6:167363000-167368000	Genic enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:167363200-167365000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:167363200-167365200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
30	chr6:167363200-167365200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr6:167363200-167365600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:167363200-167365600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr6:167363200-167365600	Strong transcription	Dnd41	blood
34	chr6:167363200-167366200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:167363200-167366800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:167363200-167368000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
37	chr6:167363400-167365000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:167363400-167365000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr6:167363400-167365000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr6:167363400-167365000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:167363400-167366000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:167363600-167365000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
43	chr6:167363600-167365200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr6:167363600-167365800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:167363600-167368600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:167363600-167368800	Weak transcription	Brain Germinal Matrix	brain
47	chr6:167363800-167365800	Strong transcription	Fetal Intestine Large	intestine
48	chr6:167363800-167366000	Strong transcription	Fetal Brain Female	brain
49	chr6:167363800-167367600	Weak transcription	Small Intestine	intestine
50	chr6:167363800-167368800	Weak transcription	NHEK	skin

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