Variant report

Variant	rs72864119
Chromosome Location	chr1:10219955-10219956
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	chr1:10211786..10214627-chr1:10218473..10220829,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1220388	1.00[EUR][1000 genomes]
rs57324977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60837845	1.00[EUR][1000 genomes]
rs72864109	1.00[EUR][1000 genomes]
rs72864112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72864161	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:10182200-10231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:10182400-10229400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:10182800-10221000	Weak transcription	Fetal Brain Male	brain
5	chr1:10182800-10231400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:10191200-10225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:10193200-10231200	Weak transcription	Small Intestine	intestine
10	chr1:10194200-10232200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:10195600-10231200	Weak transcription	HUVEC	blood vessel
12	chr1:10197600-10225000	Weak transcription	NHEK	skin
13	chr1:10197800-10220000	Weak transcription	Stomach Mucosa	stomach
14	chr1:10197800-10220000	Weak transcription	NH-A	brain
15	chr1:10197800-10224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:10197800-10224800	Weak transcription	Esophagus	oesophagus
17	chr1:10201600-10231200	Weak transcription	HMEC	breast
18	chr1:10203400-10228000	Weak transcription	GM12878-XiMat	blood
19	chr1:10204200-10224800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:10205600-10228000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:10207200-10224400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:10207400-10220800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:10207400-10224800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:10211200-10222000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:10211200-10236400	Strong transcription	Fetal Stomach	stomach
26	chr1:10211800-10221000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:10212000-10220800	Weak transcription	Gastric	stomach
28	chr1:10212000-10221200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:10212000-10222600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:10212000-10224800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:10212000-10224800	Weak transcription	Fetal Kidney	kidney
32	chr1:10212000-10225000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:10212200-10220000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:10212800-10221400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:10213000-10224400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:10213200-10220000	Weak transcription	Dnd41	blood
37	chr1:10213200-10220000	Weak transcription	Hela-S3	cervix
38	chr1:10213200-10231000	Weak transcription	A549	lung
39	chr1:10213400-10220600	Weak transcription	Brain Substantia Nigra	brain
40	chr1:10213400-10222600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:10213800-10236000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:10214600-10235600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:10214600-10237000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr1:10215200-10220800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:10215200-10229200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:10215400-10225400	Weak transcription	NHLF	lung
47	chr1:10215400-10234400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:10215600-10220800	Weak transcription	Aorta	Aorta
49	chr1:10215600-10225000	Weak transcription	HSMM	muscle
50	chr1:10215800-10220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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