Variant report

Variant	rs58221633
Chromosome Location	chr6:88043122-88043123
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	CTCF	chr6:88043020-88043170	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:88040776..88043456-chr6:88056096..88058777,2	MCF-7	breast:
2	chr6:88041023..88043490-chr6:88050888..88053357,2	K562	blood:

Variant related genes	Relation type
GJB7	TF binding region
ENSG00000203872	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11962714	0.85[AFR][1000 genomes]
rs11965302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs15836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58750423	0.85[AFR][1000 genomes]
rs58852967	0.85[AFR][1000 genomes]
rs59445510	1.00[AFR][1000 genomes]
rs59753049	0.85[AFR][1000 genomes]
rs60226642	1.00[AMR][1000 genomes]
rs60385156	0.83[AFR][1000 genomes]
rs61479073	0.85[AFR][1000 genomes]
rs6919193	0.83[AFR][1000 genomes]
rs7341237	0.84[AFR][1000 genomes]
rs73751934	0.85[AFR][1000 genomes]
rs73751987	0.85[AFR][1000 genomes]
rs73751990	0.85[AFR][1000 genomes]
rs73751994	0.85[AFR][1000 genomes]
rs73751996	0.85[AFR][1000 genomes]
rs73754114	0.85[AFR][1000 genomes]
rs73754115	0.85[AFR][1000 genomes]
rs73754116	0.85[AFR][1000 genomes]
rs73754124	0.85[AFR][1000 genomes]
rs73754145	0.85[AFR][1000 genomes]
rs73754146	0.85[AFR][1000 genomes]
rs73754147	0.85[AFR][1000 genomes]
rs73754148	0.85[AFR][1000 genomes]
rs73754163	0.85[AFR][1000 genomes]
rs73754164	0.85[AFR][1000 genomes]
rs73754173	1.00[AFR][1000 genomes]
rs73754174	1.00[AFR][1000 genomes]
rs73754193	1.00[AFR][1000 genomes]
rs73755404	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73755409	1.00[AMR][1000 genomes]
rs73755413	1.00[AMR][1000 genomes]
rs7750078	0.85[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5386	chr6:88038551-88044921	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88033000-88043600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:88033000-88043600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:88033000-88043600	Weak transcription	Spleen	Spleen
4	chr6:88033000-88049000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:88033000-88055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:88033200-88043400	Weak transcription	Primary T cells from cord blood	blood
7	chr6:88033200-88043600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr6:88033200-88043600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:88033200-88043600	Weak transcription	Pancreas	Pancrea
10	chr6:88033200-88045200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:88033200-88045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:88033200-88048000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:88033200-88056400	Weak transcription	Liver	Liver
14	chr6:88033200-88062200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:88035800-88043400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:88039000-88044200	Weak transcription	Hela-S3	cervix
17	chr6:88039000-88051400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:88039000-88068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:88039000-88078400	Weak transcription	Fetal Stomach	stomach
20	chr6:88039200-88046000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:88039400-88047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:88039400-88061200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:88039600-88046000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:88039800-88044400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:88039800-88051000	Weak transcription	GM12878-XiMat	blood
26	chr6:88040200-88075800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:88040600-88116800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:88040800-88043200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:88040800-88052600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:88041000-88043400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr6:88041000-88044400	Weak transcription	Primary B cells from cord blood	blood
32	chr6:88042400-88043400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:88042400-88043400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:88042400-88043600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr6:88042400-88045000	Enhancers	K562	blood
36	chr6:88042400-88046400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:88042600-88043200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:88042600-88043400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:88042600-88043400	Enhancers	Fetal Heart	heart
40	chr6:88042600-88044800	Enhancers	Left Ventricle	heart
41	chr6:88042800-88043200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr6:88042800-88043200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:88042800-88043600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr6:88042800-88043600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:88042800-88043800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:88042800-88044000	Enhancers	Fetal Muscle Leg	muscle
47	chr6:88042800-88044400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:88042800-88044400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:88042800-88044400	Enhancers	Fetal Thymus	thymus
50	chr6:88042800-88044400	Enhancers	Lung	lung

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