Variant report

Variant	rs478836
Chromosome Location	chr6:74321978-74321979
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74221323..74236726-chr6:74306065..74338770,101	K562	blood:
2	chr6:74321133..74323534-chr6:74341281..74343940,2	K562	blood:
3	chr6:74321340..74324338-chr6:74361477..74364146,2	MCF-7	breast:
4	chr6:74320124..74323054-chr6:74351713..74353933,2	MCF-7	breast:
5	chr6:74317037..74319356-chr6:74320974..74322634,2	MCF-7	breast:
6	chr6:74227785..74235725-chr6:74313522..74322840,21	MCF-7	breast:
7	chr6:74236552..74238220-chr6:74320205..74322243,2	MCF-7	breast:
8	chr6:74221668..74234853-chr6:74311080..74327130,62	K562	blood:
9	chr6:74222064..74227666-chr6:74315829..74323019,13	MCF-7	breast:
10	chr6:74219940..74235097-chr6:74314890..74324923,44	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223967	Chromatin interaction
ENSG00000229862	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000156508	Chromatin interaction

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs12192512	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12212323	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12212380	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1245333	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1303141	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1691341	0.81[ASN][1000 genomes]
rs1691342	0.81[ASN][1000 genomes]
rs1691343	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1691344	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1691345	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1691347	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1691348	0.84[EUR][1000 genomes]
rs1691349	0.81[ASN][1000 genomes]
rs1691350	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1691352	0.81[ASN][1000 genomes]
rs1691353	0.81[ASN][1000 genomes]
rs1703463	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1703465	0.81[ASN][1000 genomes]
rs1703466	0.81[ASN][1000 genomes]
rs1741886	0.81[ASN][1000 genomes]
rs1741888	0.81[ASN][1000 genomes]
rs1741889	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1741891	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1741893	0.81[ASN][1000 genomes]
rs1741894	0.81[ASN][1000 genomes]
rs1741895	0.81[ASN][1000 genomes]
rs1741898	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1808000	0.81[ASN][1000 genomes]
rs1848523	0.80[ASN][1000 genomes]
rs1874231	0.81[ASN][1000 genomes]
rs1972073	0.81[ASN][1000 genomes]
rs382038	0.81[EUR][1000 genomes]
rs382041	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs395996	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4079357	0.81[ASN][1000 genomes]
rs428944	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs435132	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs453979	0.85[EUR][1000 genomes]
rs472300	0.81[ASN][1000 genomes]
rs473078	0.81[ASN][1000 genomes]
rs473473	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs473921	0.81[ASN][1000 genomes]
rs474661	0.81[ASN][1000 genomes]
rs475459	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs475461	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs476838	0.80[ASN][1000 genomes]
rs476996	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs477820	0.81[ASN][1000 genomes]
rs478301	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs478503	0.81[ASN][1000 genomes]
rs480714	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs480871	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs484067	0.97[ASN][1000 genomes]
rs485349	0.81[ASN][1000 genomes]
rs485802	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs487673	0.93[ASN][1000 genomes]
rs498907	0.80[AFR][1000 genomes]
rs504477	0.81[ASN][1000 genomes]
rs506157	0.81[ASN][1000 genomes]
rs506262	0.81[ASN][1000 genomes]
rs540197	0.81[ASN][1000 genomes]
rs543642	0.81[ASN][1000 genomes]
rs546134	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs549852	0.82[EUR][1000 genomes]
rs549892	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs555151	0.81[ASN][1000 genomes]
rs555286	0.81[ASN][1000 genomes]
rs555840	0.81[ASN][1000 genomes]
rs558641	0.81[ASN][1000 genomes]
rs559843	0.81[ASN][1000 genomes]
rs560386	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs560797	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs565535	0.82[EUR][1000 genomes]
rs565836	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs567727	0.81[ASN][1000 genomes]
rs568422	0.80[ASN][1000 genomes]
rs573753	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs580531	0.81[ASN][1000 genomes]
rs588852	0.81[ASN][1000 genomes]
rs592752	0.81[ASN][1000 genomes]
rs595884	0.81[ASN][1000 genomes]
rs596414	0.81[ASN][1000 genomes]
rs60551677	0.80[ASN][1000 genomes]
rs605567	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs606742	0.81[ASN][1000 genomes]
rs606793	0.81[ASN][1000 genomes]
rs607132	0.81[ASN][1000 genomes]
rs607667	0.81[ASN][1000 genomes]
rs608557	0.80[ASN][1000 genomes]
rs609439	0.81[ASN][1000 genomes]
rs609790	0.81[ASN][1000 genomes]
rs609829	0.81[ASN][1000 genomes]
rs610260	0.81[ASN][1000 genomes]
rs611580	0.81[ASN][1000 genomes]
rs612800	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs615052	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs615956	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs623310	0.81[ASN][1000 genomes]
rs624632	0.81[ASN][1000 genomes]
rs625086	0.81[ASN][1000 genomes]
rs625512	0.81[ASN][1000 genomes]
rs626323	0.82[EUR][1000 genomes]
rs628038	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs629381	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs636166	0.81[ASN][1000 genomes]
rs639256	0.81[ASN][1000 genomes]
rs642651	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs643653	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6453684	0.81[ASN][1000 genomes]
rs651981	0.81[ASN][1000 genomes]
rs653781	0.81[ASN][1000 genomes]
rs656748	0.81[ASN][1000 genomes]
rs657212	0.81[ASN][1000 genomes]
rs670248	0.87[EUR][1000 genomes]
rs673176	0.81[ASN][1000 genomes]
rs673511	0.81[ASN][1000 genomes]
rs674482	0.81[ASN][1000 genomes]
rs674938	0.81[ASN][1000 genomes]
rs674988	0.81[ASN][1000 genomes]
rs674989	0.81[ASN][1000 genomes]
rs678409	0.86[EUR][1000 genomes]
rs686317	0.81[ASN][1000 genomes]
rs73454523	0.80[ASN][1000 genomes]
rs766708	0.80[ASN][1000 genomes]
rs903515	0.81[ASN][1000 genomes]
rs9442933	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9442934	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9446947	0.81[ASN][1000 genomes]
rs9446949	0.81[ASN][1000 genomes]
rs970091	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers 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 target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking 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 miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	172 gene(s)	inside rSNPs	diseases
8	nsv527357	chr6:74253266-74325403	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv603694	chr6:74275405-74365807	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1029927	chr6:74300496-74424355	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv1027691	chr6:74302980-74417450	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv886160	chr6:74305276-74341589	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74289600-74323800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:74290600-74338800	Weak transcription	Ovary	ovary
3	chr6:74291000-74323600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:74296200-74322200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:74296200-74322400	Weak transcription	Brain Germinal Matrix	brain
6	chr6:74296200-74332000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:74296400-74325800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:74296400-74354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:74296400-74354800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:74296400-74355000	Weak transcription	Fetal Brain Male	brain
11	chr6:74296600-74324000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:74296600-74324200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:74296600-74324400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:74296600-74344000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:74296800-74334000	Weak transcription	Fetal Lung	lung
16	chr6:74297000-74361800	Weak transcription	GM12878-XiMat	blood
17	chr6:74300800-74323600	Weak transcription	Esophagus	oesophagus
18	chr6:74303400-74355000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:74307200-74362400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:74307600-74356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:74308000-74340200	Weak transcription	Brain Substantia Nigra	brain
22	chr6:74308400-74329000	Weak transcription	NHEK	skin
23	chr6:74311200-74355000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:74311800-74324800	Weak transcription	K562	blood
25	chr6:74312600-74332400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:74313200-74325000	Strong transcription	Fetal Intestine Large	intestine
27	chr6:74313200-74331800	Strong transcription	Fetal Muscle Leg	muscle
28	chr6:74313800-74331200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr6:74314200-74362800	Weak transcription	Stomach Mucosa	stomach
30	chr6:74314400-74346400	Weak transcription	Psoas Muscle	Psoas
31	chr6:74314600-74323600	Weak transcription	Pancreas	Pancrea
32	chr6:74315000-74326000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:74315200-74348800	Weak transcription	HMEC	breast
34	chr6:74315400-74345200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr6:74315600-74362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:74316000-74325400	Strong transcription	Primary T cells from cord blood	blood
37	chr6:74316200-74347000	Strong transcription	Fetal Intestine Small	intestine
38	chr6:74316400-74349200	Weak transcription	HUVEC	blood vessel
39	chr6:74316600-74355000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr6:74316800-74324200	Weak transcription	NHLF	lung
41	chr6:74318400-74350000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:74318400-74355000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:74318600-74323600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr6:74318600-74323800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr6:74318800-74322000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:74318800-74322000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr6:74318800-74322400	Weak transcription	Aorta	Aorta
48	chr6:74318800-74323600	Weak transcription	Gastric	stomach
49	chr6:74318800-74323800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:74318800-74324000	Weak transcription	Fetal Brain Female	brain

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