Variant report

Variant	rs2534688
Chromosome Location	chr6:30597099-30597100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30597086-30597255	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30591157..30598732-chr6:30607879..30619621,21	K562	blood:
2	chr6:30590782..30598373-chr6:30685661..30690473,13	MCF-7	breast:

Variant related genes	Relation type
PTMAP1	TF binding region
ENSG00000266183	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000137343	Chromatin interaction
ENSG00000196230	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1264422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1264442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs14350	1.00[EUR][1000 genomes]
rs17195432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2252845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2394393	1.00[EUR][1000 genomes]
rs2429643	1.00[EUR][1000 genomes]
rs2517562	1.00[EUR][1000 genomes]
rs2517563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2517567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2844707	1.00[EUR][1000 genomes]
rs3094103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3094107	1.00[EUR][1000 genomes]
rs3129999	1.00[EUR][1000 genomes]
rs3130674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3130675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3132593	1.00[AMR][1000 genomes]
rs34377509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9262167	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer 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	825 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30593600-30613800	Weak transcription	Hela-S3	cervix
2	chr6:30595000-30601200	Weak transcription	Aorta	Aorta
3	chr6:30595200-30599400	Weak transcription	K562	blood
4	chr6:30595200-30601000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:30595200-30601200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:30595200-30607000	Weak transcription	Right Atrium	heart
7	chr6:30595200-30609000	Weak transcription	Colonic Mucosa	Colon
8	chr6:30595400-30597600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:30595400-30601400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:30595400-30607800	Weak transcription	Right Ventricle	heart
11	chr6:30595400-30608200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:30595400-30608400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:30595400-30614000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:30595400-30614800	Weak transcription	Small Intestine	intestine
15	chr6:30595600-30597600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:30595600-30598400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:30595600-30599400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:30595600-30600800	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:30595600-30600800	Weak transcription	Left Ventricle	heart
20	chr6:30595600-30600800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:30595600-30601000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:30595600-30601200	Weak transcription	Adipose Nuclei	Adipose
23	chr6:30595600-30601200	Weak transcription	Esophagus	oesophagus
24	chr6:30595600-30601200	Weak transcription	Gastric	stomach
25	chr6:30595600-30601200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:30595600-30601200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:30595600-30601200	Weak transcription	HMEC	breast
28	chr6:30595600-30601200	Weak transcription	NHDF-Ad	bronchial
29	chr6:30595600-30601400	Weak transcription	NH-A	brain
30	chr6:30595600-30605200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:30595600-30608000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr6:30595600-30608200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:30595600-30608600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:30595600-30611000	Weak transcription	Primary B cells from cord blood	blood
35	chr6:30595600-30613000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:30595600-30613800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:30595600-30614200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr6:30595600-30614200	Strong transcription	Fetal Stomach	stomach
39	chr6:30595600-30614200	Weak transcription	Psoas Muscle	Psoas
40	chr6:30595600-30614400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:30595800-30597200	Strong transcription	Primary T cells from cord blood	blood
42	chr6:30595800-30597600	Weak transcription	GM12878-XiMat	blood
43	chr6:30595800-30597800	Strong transcription	Stomach Smooth Muscle	stomach
44	chr6:30595800-30597800	Strong transcription	HSMM	muscle
45	chr6:30595800-30598000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr6:30595800-30598000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr6:30595800-30598000	Strong transcription	Fetal Kidney	kidney
48	chr6:30595800-30598200	Strong transcription	Placenta	Placenta
49	chr6:30595800-30598200	Strong transcription	Osteobl	bone
50	chr6:30595800-30598600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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