Variant report

Variant	rs12662149
Chromosome Location	chr6:30735675-30735676
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30735343..30739242-chr6:30745410..30750382,5	MCF-7	breast:
2	chr6:30735516..30738178-chr6:30794315..30796554,3	MCF-7	breast:
3	chr6:30735613..30737637-chr6:30772309..30773867,2	MCF-7	breast:
4	chr6:30718213..30720265-chr6:30735663..30737554,3	K562	blood:
5	chr6:30734711..30736301-chr6:30853270..30855138,2	MCF-7	breast:
6	chr6:30735539..30738504-chr6:30880365..30881967,2	MCF-7	breast:
7	chr6:30734934..30736907-chr6:30848739..30852223,3	MCF-7	breast:
8	chr6:30735347..30739906-chr6:30783605..30789456,10	MCF-7	breast:
9	chr6:30583545..30586231-chr6:30734562..30736210,2	K562	blood:
10	chr6:30735402..30739247-chr6:30785239..30791444,10	MCF-7	breast:
11	chr6:30735125..30737471-chr6:30740402..30742755,2	MCF-7	breast:
12	chr6:30708700..30710764-chr6:30734085..30735975,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204569	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000263608	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000228022	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12526186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12527188	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12660860	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12660883	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13202739	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13214831	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13217914	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13220225	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17189441	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17481190	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28670020	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28780111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28780113	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28780114	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28780120	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28780121	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28780122	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28894082	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3869075	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4278006	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4713361	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[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	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	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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 miRNA target site	967 gene(s)	inside rSNPs	diseases
5	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
6	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
7	nsv884100	chr6:30693816-30751326	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv870418	chr6:30713196-30755668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv527226	chr6:30716719-30772378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv884103	chr6:30729487-30755668	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30720600-30736600	Weak transcription	Gastric	stomach
2	chr6:30726800-30739000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:30728000-30737000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:30728200-30736400	Weak transcription	Lung	lung
5	chr6:30728200-30736600	Weak transcription	Aorta	Aorta
6	chr6:30731000-30738800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:30732000-30736200	Weak transcription	Esophagus	oesophagus
8	chr6:30732000-30736400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:30732000-30736400	Weak transcription	Brain Anterior Caudate	brain
10	chr6:30732000-30736600	Weak transcription	HSMM	muscle
11	chr6:30732000-30736800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:30732200-30736200	Weak transcription	NHLF	lung
13	chr6:30732200-30736400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:30732200-30736400	Weak transcription	NHDF-Ad	bronchial
15	chr6:30732200-30736600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:30732200-30736800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:30732200-30737000	Weak transcription	Fetal Lung	lung
18	chr6:30732400-30735800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:30732400-30735800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:30732400-30736000	Weak transcription	HMEC	breast
21	chr6:30732400-30736200	Weak transcription	Fetal Stomach	stomach
22	chr6:30732400-30736400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr6:30732400-30736400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:30732400-30736400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:30732400-30736400	Enhancers	A549	lung
26	chr6:30732400-30736400	Enhancers	HepG2	liver
27	chr6:30732400-30736400	Weak transcription	HSMMtube	muscle
28	chr6:30732400-30736600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:30732400-30736600	Weak transcription	Colon Smooth Muscle	Colon
30	chr6:30732400-30736600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:30732400-30736800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:30732400-30736800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:30732400-30736800	Weak transcription	Fetal Muscle Leg	muscle
34	chr6:30732600-30736400	Weak transcription	Fetal Intestine Large	intestine
35	chr6:30732800-30736000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:30732800-30736000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:30732800-30736000	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:30732800-30736000	Weak transcription	Small Intestine	intestine
39	chr6:30732800-30736200	Weak transcription	HUVEC	blood vessel
40	chr6:30732800-30736400	Weak transcription	Placenta	Placenta
41	chr6:30733200-30736600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:30733400-30736400	Enhancers	Hela-S3	cervix
43	chr6:30733400-30736800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:30733600-30736600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:30733800-30736600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:30734000-30736400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr6:30734000-30736800	Enhancers	NH-A	brain
48	chr6:30734000-30737000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:30734200-30736400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr6:30734200-30737000	Enhancers	K562	blood

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