Variant report

Variant	rs2057009
Chromosome Location	chr6:29579999-29580000
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:29571256..29575251-chr6:29575309..29583536,9	K562	blood:
2	chr6:29572757..29580903-chr6:29593317..29599166,10	K562	blood:
3	chr6:29578000..29583607-chr6:29584816..29592316,14	K562	blood:
4	chr6:29579403..29583874-chr6:29593619..29596165,4	K562	blood:

Variant related genes	Relation type
ENSG00000204681	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17508548	0.95[ASN][1000 genomes]
rs2076483	0.97[ASN][1000 genomes]
rs2267633	0.97[ASN][1000 genomes]
rs28359963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28359970	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28893513	0.95[ASN][1000 genomes]
rs28986300	0.85[ASN][1000 genomes]
rs28986304	0.96[ASN][1000 genomes]
rs29230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29267	0.97[ASN][1000 genomes]
rs362518	0.96[ASN][1000 genomes]
rs41291770	0.92[ASN][1000 genomes]
rs6900577	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758039	chr6:29469101-29672665	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759411	chr6:29469101-29672665	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv528285	chr6:29566842-29588146	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv462671	chr6:29566842-29588146	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv601229	chr6:29566842-29588146	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29566400-29595200	Weak transcription	Right Atrium	heart
2	chr6:29566600-29587000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:29566800-29584600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:29566800-29590000	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr6:29566800-29590600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:29567000-29589800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:29567200-29589400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:29567200-29589800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:29567600-29583800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:29567600-29592400	Strong transcription	Fetal Stomach	stomach
11	chr6:29567600-29595400	Weak transcription	A549	lung
12	chr6:29567800-29582800	Strong transcription	Ovary	ovary
13	chr6:29567800-29584600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:29568400-29582600	Strong transcription	HMEC	breast
15	chr6:29568400-29583600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:29568600-29595200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:29568800-29583200	Strong transcription	NHEK	skin
18	chr6:29569000-29582600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr6:29569000-29582800	Strong transcription	Osteobl	bone
20	chr6:29569000-29584600	Strong transcription	Spleen	Spleen
21	chr6:29569000-29592400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:29569200-29582800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:29569200-29592200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:29569400-29581600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:29569400-29581600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:29569400-29582400	Strong transcription	Fetal Lung	lung
27	chr6:29569400-29592000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr6:29569400-29595600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:29569600-29581800	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr6:29569600-29582400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:29569800-29583000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:29569800-29583200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr6:29570000-29581600	Strong transcription	Lung	lung
34	chr6:29570000-29582600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr6:29570200-29580200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:29570200-29582600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:29570800-29582000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr6:29570800-29582200	Strong transcription	Colon Smooth Muscle	Colon
39	chr6:29570800-29589600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr6:29571000-29582400	Strong transcription	K562	blood
41	chr6:29571200-29580200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:29571400-29583200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:29571400-29584400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr6:29571600-29582800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:29571600-29589800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:29571800-29582000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:29571800-29582400	Strong transcription	Left Ventricle	heart
48	chr6:29572000-29583200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:29572000-29590000	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr6:29572200-29582000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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