Variant report

Variant	rs60799191
Chromosome Location	chr1:224027598-224027599
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	chr1:224006162..224007955-chr1:224027142..224029222,2	K562	blood:
2	chr1:224021776..224023617-chr1:224025728..224028035,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12038706	0.80[AFR][1000 genomes]
rs56831338	0.98[AFR][1000 genomes]
rs57108544	0.94[AFR][1000 genomes]
rs57153784	0.94[AFR][1000 genomes]
rs59173114	0.89[AFR][1000 genomes]
rs60245976	0.94[AFR][1000 genomes]
rs73114404	0.98[AFR][1000 genomes]
rs73116403	0.80[AFR][1000 genomes]
rs73127419	0.89[AFR][1000 genomes]
rs73127431	0.94[AFR][1000 genomes]
rs73127434	0.94[AFR][1000 genomes]
rs73127439	0.94[AFR][1000 genomes]
rs73128044	0.89[AFR][1000 genomes]
rs73131150	0.98[AFR][1000 genomes]
rs73131157	0.98[AFR][1000 genomes]
rs73131162	0.98[AFR][1000 genomes]
rs73131164	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224020600-224032400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:224020800-224028600	Weak transcription	Placenta	Placenta
3	chr1:224020800-224031600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:224023000-224029000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:224023000-224030600	Weak transcription	Fetal Kidney	kidney
6	chr1:224023200-224031600	Weak transcription	Hela-S3	cervix
7	chr1:224023800-224028000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:224024000-224027800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:224024000-224028000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:224024000-224031800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:224024000-224031800	Weak transcription	Thymus	Thymus
12	chr1:224024200-224028000	Weak transcription	NHDF-Ad	bronchial
13	chr1:224024200-224031600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:224024200-224031600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:224024200-224031600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:224024200-224031800	Weak transcription	Adipose Nuclei	Adipose
17	chr1:224024400-224031800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:224024600-224028800	Weak transcription	Psoas Muscle	Psoas
19	chr1:224024600-224029600	Weak transcription	Pancreas	Pancrea
20	chr1:224024600-224030800	Weak transcription	Primary B cells from cord blood	blood
21	chr1:224024600-224031600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:224024600-224031800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:224024600-224031800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:224024600-224031800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:224024600-224031800	Weak transcription	Esophagus	oesophagus
26	chr1:224024800-224028200	Enhancers	K562	blood
27	chr1:224025000-224028200	Weak transcription	HSMMtube	muscle
28	chr1:224025200-224028000	Weak transcription	NH-A	brain
29	chr1:224025200-224030000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:224025200-224030600	Weak transcription	NHEK	skin
31	chr1:224025200-224031800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:224025400-224028000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:224025400-224028000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:224025400-224028000	Weak transcription	Osteobl	bone
35	chr1:224025400-224029400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:224025600-224028000	Weak transcription	HSMM	muscle
37	chr1:224025600-224032200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:224025800-224029600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:224025800-224029800	Weak transcription	Fetal Brain Male	brain
40	chr1:224026000-224028000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:224026000-224028200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:224026000-224030000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:224026000-224031600	Weak transcription	Fetal Intestine Small	intestine
44	chr1:224026200-224028600	Weak transcription	Liver	Liver
45	chr1:224026200-224029200	Weak transcription	A549	lung
46	chr1:224026200-224030000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:224026200-224031800	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:224026400-224027800	Weak transcription	NHLF	lung
49	chr1:224026400-224028000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:224026400-224028000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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