Variant report

Variant	rs6570597
Chromosome Location	chr6:144267969-144267970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144266910..144268480-chr6:144268639..144270176,2	K562	blood:
2	chr6:144262215..144265608-chr6:144265848..144269121,4	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12213307	1.00[ASN][1000 genomes]
rs2328534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2328535	0.89[CEU][hapmap]
rs4896691	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73000549	1.00[ASN][1000 genomes]
rs73000553	1.00[ASN][1000 genomes]
rs9403539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144253200-144272600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr6:144256600-144284400	Weak transcription	Aorta	Aorta
3	chr6:144258400-144288000	Weak transcription	Primary T cells from cord blood	blood
4	chr6:144259200-144268000	Weak transcription	Fetal Intestine Large	intestine
5	chr6:144259200-144268000	Weak transcription	Fetal Kidney	kidney
6	chr6:144259200-144268000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:144259200-144268400	Weak transcription	Adipose Nuclei	Adipose
8	chr6:144259200-144268600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:144259400-144268200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:144259600-144268000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:144259600-144268200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:144260800-144269000	Weak transcription	Psoas Muscle	Psoas
13	chr6:144261000-144268200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:144261000-144268400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:144261200-144268200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr6:144261200-144268600	Weak transcription	NHLF	lung
17	chr6:144261400-144269000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr6:144261400-144269200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:144261400-144270600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:144261600-144268400	Weak transcription	Left Ventricle	heart
21	chr6:144261600-144268800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:144261600-144285800	Weak transcription	Small Intestine	intestine
23	chr6:144261600-144287000	Weak transcription	GM12878-XiMat	blood
24	chr6:144261800-144268000	Weak transcription	Osteobl	bone
25	chr6:144262200-144268600	Weak transcription	Right Ventricle	heart
26	chr6:144262600-144268000	Strong transcription	Fetal Muscle Leg	muscle
27	chr6:144262800-144268400	Weak transcription	Spleen	Spleen
28	chr6:144262800-144269000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:144263000-144268400	Weak transcription	Fetal Brain Female	brain
30	chr6:144263400-144268000	Weak transcription	Placenta	Placenta
31	chr6:144263400-144280200	Weak transcription	Gastric	stomach
32	chr6:144263600-144268000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:144263600-144268000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:144263600-144268200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr6:144263600-144268600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:144263600-144269200	Weak transcription	Esophagus	oesophagus
37	chr6:144263600-144271800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:144263800-144268000	Weak transcription	Fetal Stomach	stomach
39	chr6:144263800-144268400	Weak transcription	Fetal Thymus	thymus
40	chr6:144265600-144268800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:144266000-144270400	Weak transcription	HSMM	muscle
42	chr6:144266000-144274000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr6:144266000-144277200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:144266600-144268200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr6:144266600-144269000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:144266600-144269000	Weak transcription	Primary B cells from cord blood	blood
47	chr6:144266800-144268400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:144267000-144268400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:144267000-144269200	Weak transcription	Colonic Mucosa	Colon
50	chr6:144267000-144269800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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