Variant report

Variant	rs13195417
Chromosome Location	chr6:30861610-30861611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30797838..30800047-chr6:30860425..30862071,2	K562	blood:
2	chr6:30709658..30711296-chr6:30861145..30862930,2	MCF-7	breast:
3	chr6:30860099..30863681-chr6:30886781..30890707,3	K562	blood:
4	chr6:30847234..30851507-chr6:30857768..30862295,8	K562	blood:
5	chr6:30747932..30749847-chr6:30861062..30862984,2	K562	blood:

Variant related genes	Relation type
ENSG00000228022	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000137312	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13191258	0.90[ASN][1000 genomes]
rs13200483	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13208886	1.00[ASN][1000 genomes]
rs13210132	0.90[ASN][1000 genomes]
rs13211972	0.90[ASN][1000 genomes]
rs13214865	0.90[ASN][1000 genomes]
rs28732075	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28732080	0.90[ASN][1000 genomes]
rs28732081	0.90[ASN][1000 genomes]
rs28732088	0.90[ASN][1000 genomes]
rs34331231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' 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	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv884109	chr6:30824532-30872203	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv884111	chr6:30845563-30864279	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	nsv884112	chr6:30845563-30866618	Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
9	nsv884114	chr6:30846830-30867830	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv884116	chr6:30848253-30864279	Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
11	nsv884117	chr6:30849124-30862423	Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Weak transcription 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	27 gene(s)	inside rSNPs	diseases
12	nsv884120	chr6:30849822-30864279	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
13	nsv884123	chr6:30850191-30865904	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
14	nsv884124	chr6:30854090-30864279	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	18 gene(s)	inside rSNPs	diseases
15	nsv884125	chr6:30854090-30864829	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	18 gene(s)	inside rSNPs	diseases
16	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30854400-30862200	Weak transcription	Liver	Liver
2	chr6:30854600-30875400	Weak transcription	Psoas Muscle	Psoas
3	chr6:30854800-30862600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:30854800-30862600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr6:30854800-30870000	Weak transcription	Primary B cells from cord blood	blood
6	chr6:30854800-30875200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr6:30854800-30875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:30855000-30868600	Strong transcription	Fetal Intestine Small	intestine
9	chr6:30855600-30868200	Strong transcription	Fetal Intestine Large	intestine
10	chr6:30856000-30867600	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr6:30856000-30868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:30856000-30869200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:30856200-30867800	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr6:30856200-30868000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr6:30856400-30867400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:30856400-30867800	Strong transcription	Colonic Mucosa	Colon
17	chr6:30856400-30868200	Strong transcription	Primary T cells from cord blood	blood
18	chr6:30856400-30868200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr6:30856400-30868200	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:30856400-30868400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:30856600-30863600	Weak transcription	Hela-S3	cervix
22	chr6:30856600-30867600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr6:30856600-30867600	Strong transcription	HepG2	liver
24	chr6:30856600-30867800	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr6:30856600-30867800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:30856600-30867800	Strong transcription	Lung	lung
27	chr6:30856600-30867800	Strong transcription	Ovary	ovary
28	chr6:30856600-30868000	Strong transcription	Dnd41	blood
29	chr6:30856600-30868200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:30856600-30868200	Strong transcription	Placenta	Placenta
31	chr6:30856800-30862200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:30856800-30862200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:30856800-30863000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr6:30856800-30867400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:30856800-30867600	Strong transcription	Adipose Nuclei	Adipose
36	chr6:30856800-30868200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:30857000-30867800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:30857000-30867800	Strong transcription	Spleen	Spleen
39	chr6:30857000-30868200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:30857200-30867600	Strong transcription	Fetal Lung	lung
41	chr6:30857200-30867800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:30857800-30867600	Strong transcription	Pancreas	Pancrea
43	chr6:30858000-30862000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:30858200-30864200	Weak transcription	GM12878-XiMat	blood
45	chr6:30858200-30868200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:30858200-30869000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:30858400-30867400	Strong transcription	Colon Smooth Muscle	Colon
48	chr6:30858400-30867800	Strong transcription	Thymus	Thymus
49	chr6:30858400-30868200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:30858400-30868200	Strong transcription	Gastric	stomach

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