Variant report

Variant	rs4448084
Chromosome Location	chr6:31837503-31837504
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31759127..31760813-chr6:31836278..31838027,2	K562	blood:
2	chr6:31802171..31804335-chr6:31837175..31839959,2	MCF-7	breast:
3	chr6:31829655..31833145-chr6:31833700..31837533,7	MCF-7	breast:
4	chr6:31836840..31843251-chr6:31862592..31868285,8	MCF-7	breast:
5	chr6:31836750..31839391-chr6:31864326..31866210,2	K562	blood:
6	chr6:31828958..31833712-chr6:31836982..31839801,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204394	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000204371	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204386	Chromatin interaction
ENSG00000201823	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10456397	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961665	1.00[ASN][1000 genomes]
rs11966200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12193504	0.82[EUR][1000 genomes]
rs12193582	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12194905	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12206352	1.00[ASN][1000 genomes]
rs12207158	0.87[ASN][1000 genomes]
rs12213415	0.87[ASN][1000 genomes]
rs12213612	1.00[ASN][1000 genomes]
rs13191375	0.82[EUR][1000 genomes]
rs13196409	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35009002	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71543427	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
2	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
3	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
5	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
7	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
9	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
10	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
12	nsv884428	chr6:31728102-31870326	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
13	nsv462872	chr6:31778272-31864304	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
14	nsv601945	chr6:31778272-31864304	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
15	nsv601950	chr6:31785438-32492308	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
16	nsv601951	chr6:31785438-32496748	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
17	nsv601955	chr6:31785453-32484368	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
18	nsv601956	chr6:31785453-32492308	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
19	nsv462874	chr6:31794592-31864304	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
20	nsv601959	chr6:31794592-31864304	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
21	nsv884472	chr6:31813898-31870856	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
22	nsv508399	chr6:31829474-31902423	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
23	nsv884474	chr6:31836055-31870326	Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31830800-31845200	Weak transcription	Small Intestine	intestine
2	chr6:31831800-31845000	Weak transcription	Lung	lung
3	chr6:31832000-31842600	Strong transcription	Colonic Mucosa	Colon
4	chr6:31832000-31856000	Weak transcription	Right Atrium	heart
5	chr6:31832200-31842800	Strong transcription	Fetal Intestine Small	intestine
6	chr6:31832400-31838400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:31832400-31838600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:31832400-31840000	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:31832400-31840600	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr6:31832400-31840600	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr6:31832400-31847400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:31832400-31847600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr6:31832400-31847600	Weak transcription	NH-A	brain
14	chr6:31832400-31848200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:31832400-31850800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr6:31832600-31838000	Weak transcription	Spleen	Spleen
17	chr6:31832600-31838200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:31833000-31838600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:31833000-31847400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:31833200-31838600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:31833200-31864200	Weak transcription	Fetal Heart	heart
22	chr6:31833400-31838200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:31833400-31838400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:31833800-31847400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:31834000-31838200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:31834000-31838400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:31835000-31840200	Strong transcription	Duodenum Mucosa	Duodenum
28	chr6:31836000-31838200	Strong transcription	Fetal Stomach	stomach
29	chr6:31836200-31838800	Weak transcription	K562	blood
30	chr6:31836200-31843800	Strong transcription	Fetal Intestine Large	intestine
31	chr6:31836400-31847600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:31836600-31838200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:31836600-31838200	Enhancers	HepG2	liver
34	chr6:31836800-31847800	Weak transcription	Hela-S3	cervix
35	chr6:31837000-31837600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:31837000-31838000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:31837000-31838200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:31837200-31837800	Weak transcription	Fetal Thymus	thymus
39	chr6:31837200-31844600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:31837200-31844800	Weak transcription	Pancreas	Pancrea
41	chr6:31837400-31838200	Weak transcription	Gastric	stomach
42	chr6:31837400-31838600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:31837400-31842000	Weak transcription	Stomach Mucosa	stomach

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