Variant report

Variant	rs12205818
Chromosome Location	chr6:76421535-76421536
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:76416294..76419277-chr6:76420477..76423022,2	K562	blood:
2	chr6:76420291..76423663-chr6:76455456..76460338,5	MCF-7	breast:
3	chr6:76402073..76403999-chr6:76420565..76422699,2	MCF-7	breast:
4	chr6:76413657..76415200-chr6:76420816..76423209,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196586	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1045758	0.88[ASN][1000 genomes]
rs10806047	0.88[ASN][1000 genomes]
rs10806051	0.88[ASN][1000 genomes]
rs10943277	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943278	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943279	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943287	0.88[ASN][1000 genomes]
rs10943294	0.88[ASN][1000 genomes]
rs10943295	0.88[ASN][1000 genomes]
rs12153964	0.88[ASN][1000 genomes]
rs12154202	0.88[ASN][1000 genomes]
rs12192223	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196105	0.88[ASN][1000 genomes]
rs12197993	0.88[ASN][1000 genomes]
rs12202491	0.88[ASN][1000 genomes]
rs12203091	0.88[ASN][1000 genomes]
rs12203148	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203461	0.88[ASN][1000 genomes]
rs12208368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210386	0.88[ASN][1000 genomes]
rs12210963	0.88[ASN][1000 genomes]
rs12211167	0.88[ASN][1000 genomes]
rs12211173	0.88[ASN][1000 genomes]
rs12211735	0.88[ASN][1000 genomes]
rs12212171	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212604	0.84[ASN][1000 genomes]
rs12213795	0.88[ASN][1000 genomes]
rs12214738	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215914	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12215965	0.88[ASN][1000 genomes]
rs12216518	0.88[ASN][1000 genomes]
rs13193694	0.88[ASN][1000 genomes]
rs13194557	0.88[ASN][1000 genomes]
rs13196164	0.88[ASN][1000 genomes]
rs13204537	0.88[ASN][1000 genomes]
rs13205073	0.88[ASN][1000 genomes]
rs13211391	0.88[ASN][1000 genomes]
rs13216921	0.88[ASN][1000 genomes]
rs13220416	0.81[ASN][1000 genomes]
rs17792773	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1923586	0.88[ASN][1000 genomes]
rs2208798	0.88[ASN][1000 genomes]
rs28480026	0.92[ASN][1000 genomes]
rs33997653	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34636573	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35973114	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778008	0.88[ASN][1000 genomes]
rs3798430	0.88[ASN][1000 genomes]
rs3798437	0.88[ASN][1000 genomes]
rs3798440	0.88[ASN][1000 genomes]
rs3798441	0.88[ASN][1000 genomes]
rs3798442	0.88[ASN][1000 genomes]
rs3798455	0.88[ASN][1000 genomes]
rs57268793	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58570618	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67016585	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71561434	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71561437	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71561438	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72886845	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9341531	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9341534	0.88[ASN][1000 genomes]
rs9341535	0.84[ASN][1000 genomes]
rs9341540	0.88[ASN][1000 genomes]
rs9343315	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9343320	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9343326	0.88[ASN][1000 genomes]
rs9350596	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9350602	0.88[ASN][1000 genomes]
rs9352228	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352229	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352231	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352232	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9352241	0.88[ASN][1000 genomes]
rs9352244	0.88[ASN][1000 genomes]
rs9352245	0.88[ASN][1000 genomes]
rs9359133	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9359135	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9359144	0.88[ASN][1000 genomes]
rs9359148	0.88[ASN][1000 genomes]
rs9360926	0.92[ASN][1000 genomes]
rs9360930	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9360932	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9360939	0.81[ASN][1000 genomes]
rs9360942	0.88[ASN][1000 genomes]
rs9360946	0.88[ASN][1000 genomes]
rs9360947	0.88[ASN][1000 genomes]
rs9360948	0.88[ASN][1000 genomes]
rs9360950	0.88[ASN][1000 genomes]
rs9360952	0.88[ASN][1000 genomes]
rs9360956	0.88[ASN][1000 genomes]
rs9447540	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
6	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv1023331	chr6:76238459-76482117	Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv538315	chr6:76238459-76482117	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1017542	chr6:76238459-76537447	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv1031745	chr6:76257913-76493355	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv538316	chr6:76257913-76493355	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	nsv533100	chr6:76257914-76493354	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
15	nsv1023749	chr6:76287578-76482117	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv538317	chr6:76287578-76482117	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
17	nsv1021090	chr6:76306100-76759397	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv538318	chr6:76306100-76759397	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
19	nsv886184	chr6:76320846-76462711	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv886185	chr6:76320846-76498109	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
21	nsv886186	chr6:76328955-76469115	Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv1032961	chr6:76343575-76788852	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
23	nsv932201	chr6:76365548-77219650	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats 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	20 gene(s)	inside rSNPs	diseases
24	nsv886187	chr6:76408950-76469115	Strong transcription Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	nsv1028340	chr6:76410921-76960225	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
26	nsv538319	chr6:76410921-76960225	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
27	nsv886188	chr6:76411843-76469115	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76382000-76422800	Weak transcription	Stomach Mucosa	stomach
2	chr6:76391400-76426600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:76391600-76427200	Weak transcription	Small Intestine	intestine
4	chr6:76392000-76423400	Weak transcription	NHEK	skin
5	chr6:76392000-76423800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:76392200-76426800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:76397400-76430800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:76398000-76428200	Weak transcription	Colonic Mucosa	Colon
9	chr6:76398400-76425400	Weak transcription	Pancreas	Pancrea
10	chr6:76399800-76426200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:76401600-76426400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:76402200-76425400	Strong transcription	Fetal Intestine Large	intestine
13	chr6:76408200-76421600	Weak transcription	A549	lung
14	chr6:76408200-76423800	Weak transcription	Fetal Brain Male	brain
15	chr6:76408200-76424000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:76409000-76430800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:76410600-76426400	Weak transcription	Esophagus	oesophagus
18	chr6:76410800-76421600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:76410800-76426000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:76411000-76421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:76411200-76421600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:76412200-76421600	Weak transcription	Lung	lung
23	chr6:76412200-76427600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:76413800-76424200	Weak transcription	Hela-S3	cervix
25	chr6:76414000-76423000	Weak transcription	Psoas Muscle	Psoas
26	chr6:76414000-76424000	Weak transcription	Aorta	Aorta
27	chr6:76414000-76424000	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:76415800-76426800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:76416000-76423800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:76416000-76425600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:76416000-76425800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:76416000-76426400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:76416000-76428600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:76416200-76427400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr6:76416400-76426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:76416400-76426200	Strong transcription	Dnd41	blood
37	chr6:76416400-76427800	Strong transcription	HSMM	muscle
38	chr6:76416600-76426800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:76416600-76426800	Strong transcription	Liver	Liver
40	chr6:76417000-76427200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:76417200-76425400	Strong transcription	Fetal Thymus	thymus
42	chr6:76417200-76425400	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:76417200-76427800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr6:76417400-76426200	Strong transcription	Placenta	Placenta
45	chr6:76417400-76426200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr6:76417400-76427000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr6:76417600-76421600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr6:76418000-76425600	Weak transcription	Spleen	Spleen
49	chr6:76418400-76430600	Weak transcription	Gastric	stomach
50	chr6:76418800-76423000	Strong transcription	HMEC	breast

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