Variant report

Variant	rs12199994
Chromosome Location	chr6:30723914-30723915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30723362..30725478-chr6:30789187..30791435,2	MCF-7	breast:
2	chr6:30723023..30725231-chr6:30773189..30775905,2	MCF-7	breast:
3	chr6:30721626..30724111-chr6:30729705..30731621,2	K562	blood:
4	chr6:30723722..30725318-chr6:30780845..30782479,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12210947	0.82[EUR][1000 genomes]
rs12213069	0.91[EUR][1000 genomes]
rs12213680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897888	0.90[EUR][1000 genomes]
rs16897889	0.90[EUR][1000 genomes]
rs3869076	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60332850	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62408687	0.93[EUR][1000 genomes]
rs62408690	0.90[EUR][1000 genomes]
rs62408692	0.88[EUR][1000 genomes]
rs62408693	0.88[EUR][1000 genomes]
rs62408705	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription 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	406 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv884101	chr6:30695920-30733121	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	163 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30712600-30724000	Enhancers	HMEC	breast
2	chr6:30717000-30724000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:30717800-30725400	Weak transcription	Spleen	Spleen
4	chr6:30717800-30726800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:30719600-30725000	Weak transcription	GM12878-XiMat	blood
6	chr6:30719800-30727200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:30719800-30731600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:30720000-30724000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:30720000-30724000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:30720000-30724000	Enhancers	NHDF-Ad	bronchial
11	chr6:30720000-30724000	Enhancers	Osteobl	bone
12	chr6:30720000-30725800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr6:30720400-30725800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:30720400-30731000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:30720600-30736600	Weak transcription	Gastric	stomach
16	chr6:30720800-30724400	Weak transcription	HepG2	liver
17	chr6:30720800-30727000	Weak transcription	Pancreas	Pancrea
18	chr6:30720800-30727600	Weak transcription	Lung	lung
19	chr6:30720800-30727800	Weak transcription	Esophagus	oesophagus
20	chr6:30721000-30725200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:30721000-30725200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:30721000-30725200	Weak transcription	K562	blood
23	chr6:30721000-30725600	Enhancers	NHEK	skin
24	chr6:30721000-30727400	Weak transcription	Aorta	Aorta
25	chr6:30721200-30724000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:30721200-30725200	Weak transcription	Right Atrium	heart
27	chr6:30721200-30725200	Weak transcription	Right Ventricle	heart
28	chr6:30721200-30725400	Weak transcription	Left Ventricle	heart
29	chr6:30721200-30725800	Weak transcription	Small Intestine	intestine
30	chr6:30721200-30726400	Weak transcription	Adipose Nuclei	Adipose
31	chr6:30721200-30726800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:30721200-30727000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:30721200-30727600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:30721400-30724800	Weak transcription	Fetal Heart	heart
35	chr6:30721400-30725000	Weak transcription	HUVEC	blood vessel
36	chr6:30721400-30725200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:30721400-30725200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:30721400-30725400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:30721400-30727400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr6:30721600-30726600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:30721800-30724000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:30721800-30726800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr6:30722000-30724000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:30722800-30724000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:30722800-30725000	Weak transcription	Hela-S3	cervix
46	chr6:30723000-30724000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr6:30723000-30724200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr6:30723000-30725200	Weak transcription	NH-A	brain
49	chr6:30723200-30725200	Weak transcription	HSMMtube	muscle
50	chr6:30723200-30726400	Weak transcription	HSMM	muscle

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