Variant report

Variant	rs9475848
Chromosome Location	chr6:57199436-57199437
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	chr6:57197771..57200072-chr6:57204216..57205882,2	K562	blood:
2	chr6:57198328..57200503-chr6:57228180..57229836,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9475830	0.87[AFR][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	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758056	chr6:57184541-57562604	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759432	chr6:57184541-57562604	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1034139	chr6:57192993-57253423	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1022055	chr6:57192993-57353692	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57184200-57201200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:57184800-57199600	Strong transcription	HSMM	muscle
3	chr6:57190000-57199800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:57190000-57200000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:57191800-57199800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:57192000-57199600	ZNF genes & repeats	GM12878-XiMat	blood
7	chr6:57192000-57200000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:57192200-57199800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr6:57192200-57199800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr6:57192200-57199800	ZNF genes & repeats	Dnd41	blood
11	chr6:57192600-57199800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:57192600-57200000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:57193000-57201000	Weak transcription	Gastric	stomach
14	chr6:57193000-57203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:57193600-57207400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:57194200-57199800	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr6:57194600-57201200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:57194600-57202000	Weak transcription	Fetal Stomach	stomach
19	chr6:57194600-57214800	Weak transcription	Small Intestine	intestine
20	chr6:57194600-57215200	Weak transcription	Ovary	ovary
21	chr6:57194600-57226200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:57194600-57244800	Weak transcription	Spleen	Spleen
23	chr6:57194800-57202000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr6:57194800-57202200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr6:57194800-57206000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:57194800-57211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr6:57195000-57201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:57195600-57199600	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr6:57195600-57201400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr6:57195600-57202400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr6:57195600-57204600	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:57195600-57212600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:57195600-57238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:57195800-57199600	Strong transcription	Fetal Thymus	thymus
35	chr6:57196000-57199800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
36	chr6:57196200-57199800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr6:57196200-57204000	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:57196600-57199600	ZNF genes & repeats	Fetal Lung	lung
39	chr6:57196800-57199800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr6:57196800-57199800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr6:57197200-57199800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:57197200-57200800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:57197400-57199600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:57197400-57199800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr6:57197600-57199600	Strong transcription	NHDF-Ad	bronchial
46	chr6:57197600-57199800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr6:57197600-57199800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr6:57197600-57200000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr6:57197600-57201200	Weak transcription	Liver	Liver
50	chr6:57197800-57199600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell

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