Variant report

Variant	rs62395845
Chromosome Location	chr6:31840408-31840409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31836840..31843251-chr6:31862592..31868285,8	MCF-7	breast:
2	chr6:31839027..31841455-chr6:31894633..31896958,2	MCF-7	breast:
3	chr6:31802869..31806445-chr6:31839783..31843183,4	K562	blood:
4	chr6:31837893..31841462-chr6:31843957..31848091,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201754	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000244255	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000204385	Chromatin interaction
ENSG00000204371	Chromatin interaction
ENSG00000201823	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2021007	1.00[ASN][1000 genomes]
rs4151664	0.80[ASN][1000 genomes]
rs534892	0.94[ASN][1000 genomes]
rs552412	0.94[ASN][1000 genomes]
rs613281	1.00[ASN][1000 genomes]
rs9267652	1.00[ASN][1000 genomes]
rs9267656	1.00[ASN][1000 genomes]
rs9267660	1.00[ASN][1000 genomes]
rs9267661	0.82[ASN][1000 genomes]
rs9267662	1.00[ASN][1000 genomes]
rs9267663	1.00[ASN][1000 genomes]
rs9267665	1.00[ASN][1000 genomes]
rs9267671	0.80[ASN][1000 genomes]
rs9267676	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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
24	nsv462875	chr6:31838441-31907147	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
25	nsv601960	chr6:31838441-31907147	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

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	chr6:31832400-31840600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr6:31832400-31840600	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr6:31832400-31847400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:31832400-31847600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:31832400-31847600	Weak transcription	NH-A	brain
11	chr6:31832400-31848200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:31832400-31850800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:31833000-31847400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:31833200-31864200	Weak transcription	Fetal Heart	heart
15	chr6:31833800-31847400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:31836200-31843800	Strong transcription	Fetal Intestine Large	intestine
17	chr6:31836400-31847600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:31836800-31847800	Weak transcription	Hela-S3	cervix
19	chr6:31837200-31844600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:31837200-31844800	Weak transcription	Pancreas	Pancrea
21	chr6:31837400-31842000	Weak transcription	Stomach Mucosa	stomach
22	chr6:31838400-31845200	Weak transcription	Right Ventricle	heart
23	chr6:31838600-31840600	Strong transcription	Gastric	stomach
24	chr6:31838600-31846200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:31839000-31842000	Weak transcription	Fetal Thymus	thymus
26	chr6:31839000-31845000	Weak transcription	Fetal Kidney	kidney
27	chr6:31839000-31847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:31839000-31849000	Weak transcription	HSMM	muscle
29	chr6:31839200-31847000	Weak transcription	Osteobl	bone
30	chr6:31839200-31847400	Weak transcription	HSMMtube	muscle
31	chr6:31839200-31848800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:31839400-31842000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:31839400-31842600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:31839400-31843200	Weak transcription	A549	lung
35	chr6:31839400-31845200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:31839400-31847400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:31839400-31847400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:31839400-31847400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:31839400-31847400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:31839400-31847400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr6:31839400-31847600	Weak transcription	HMEC	breast
42	chr6:31839600-31840600	Strong transcription	Fetal Stomach	stomach
43	chr6:31839600-31842800	Weak transcription	Spleen	Spleen
44	chr6:31839600-31844800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:31839600-31847000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr6:31839600-31847600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:31839800-31842000	Weak transcription	HepG2	liver
48	chr6:31839800-31842200	Weak transcription	K562	blood
49	chr6:31839800-31842600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:31839800-31847000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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