Variant report

Variant	rs6588244
Chromosome Location	chr1:67610220-67610221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67591574..67593270-chr1:67608776..67611381,2	K562	blood:
2	chr1:67610098..67611051-chr1:67676932..67677867,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203963	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4655521	1.00[ASN][1000 genomes]
rs4655522	1.00[ASN][1000 genomes]
rs7540900	1.00[ASN][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	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv461762	chr1:67551209-67648460	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv546446	chr1:67551209-67648460	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870950	chr1:67575549-67627260	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67606600-67612200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr1:67607800-67614000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:67608200-67610600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:67608200-67612800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr1:67608200-67614200	Weak transcription	Fetal Intestine Small	intestine
6	chr1:67608400-67610600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:67608400-67612800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:67608400-67614600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:67608600-67610400	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:67609000-67610400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:67609000-67610800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:67609000-67614800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:67609200-67614400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:67609400-67610800	Enhancers	Primary T cells from cord blood	blood
15	chr1:67609400-67610800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr1:67609400-67614400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:67609400-67614400	Weak transcription	K562	blood
18	chr1:67609600-67610600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr1:67609600-67614000	Weak transcription	Stomach Mucosa	stomach
20	chr1:67609600-67614400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:67609600-67614400	Weak transcription	Fetal Thymus	thymus
22	chr1:67609600-67614800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:67610000-67612400	Weak transcription	GM12878-XiMat	blood
24	chr1:67610000-67614600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:67610000-67614600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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