Variant report

Variant	rs72852653
Chromosome Location	chr6:38412275-38412276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38411269..38413093-chr6:38413488..38416191,2	K562	blood:
2	chr6:38410346..38413041-chr6:38421338..38423278,2	MCF-7	breast:
3	chr6:38409873..38411784-chr6:38412186..38413893,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72851457	1.00[AFR][1000 genomes]
rs72851482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72853415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv885818	chr6:38147745-38436317	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv885820	chr6:38166511-38468887	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1032358	chr6:38323745-38415855	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1022724	chr6:38332368-38454527	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv602958	chr6:38362024-38446634	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1030889	chr6:38374812-38450432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38396400-38449800	Weak transcription	Primary B cells from cord blood	blood
2	chr6:38398800-38413800	Weak transcription	Aorta	Aorta
3	chr6:38404800-38413800	Weak transcription	Small Intestine	intestine
4	chr6:38405200-38413800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:38405200-38420800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:38405400-38413000	Weak transcription	Fetal Heart	heart
7	chr6:38408200-38419200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:38409200-38413800	Weak transcription	Ovary	ovary
9	chr6:38410000-38412400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:38410800-38412400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:38410800-38412600	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:38411600-38412800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:38411600-38412800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:38412000-38412400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:38412000-38413000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:38412000-38413200	Weak transcription	Brain Substantia Nigra	brain
17	chr6:38412000-38413800	Weak transcription	Right Atrium	heart
18	chr6:38412000-38414000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:38412000-38415800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:38412000-38415800	Weak transcription	Psoas Muscle	Psoas
21	chr6:38412200-38413000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:38412200-38413800	Weak transcription	Brain Anterior Caudate	brain
23	chr6:38412200-38414000	Weak transcription	Spleen	Spleen
24	chr6:38412200-38445600	Weak transcription	Primary T cells from cord blood	blood

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