Variant report

Variant	rs72864112
Chromosome Location	chr1:10212921-10212922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9935007..9935595-chr1:10212718..10213638,4	K562	blood:
2	chr1:9686680..9687464-chr1:10212705..10213334,2	K562	blood:
3	chr1:10118246..10119140-chr1:10212463..10213220,2	MCF-7	breast:
4	chr1:10010481..10011034-chr1:10212792..10213669,3	K562	blood:
5	chr1:10211786..10214627-chr1:10218473..10220829,2	K562	blood:

Variant related genes	Relation type
ENSG00000233623	Chromatin interaction

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]
rs72864119	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10163400-10219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:10182200-10231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:10182400-10229400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:10182800-10221000	Weak transcription	Fetal Brain Male	brain
6	chr1:10182800-10231400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:10191200-10225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:10191800-10215600	Weak transcription	Psoas Muscle	Psoas
11	chr1:10193200-10231200	Weak transcription	Small Intestine	intestine
12	chr1:10194200-10232200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:10195400-10219400	Weak transcription	Colonic Mucosa	Colon
14	chr1:10195600-10231200	Weak transcription	HUVEC	blood vessel
15	chr1:10196800-10218000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:10197600-10214800	Weak transcription	NHDF-Ad	bronchial
17	chr1:10197600-10225000	Weak transcription	NHEK	skin
18	chr1:10197800-10215600	Weak transcription	Right Ventricle	heart
19	chr1:10197800-10219800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:10197800-10220000	Weak transcription	Stomach Mucosa	stomach
21	chr1:10197800-10220000	Weak transcription	NH-A	brain
22	chr1:10197800-10224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:10197800-10224800	Weak transcription	Esophagus	oesophagus
24	chr1:10201600-10215200	Weak transcription	Aorta	Aorta
25	chr1:10201600-10231200	Weak transcription	HMEC	breast
26	chr1:10203200-10213400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:10203400-10228000	Weak transcription	GM12878-XiMat	blood
28	chr1:10204000-10215000	Weak transcription	NHLF	lung
29	chr1:10204000-10215400	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:10204200-10224800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:10204400-10218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:10205600-10218400	Weak transcription	Osteobl	bone
33	chr1:10205600-10228000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:10207200-10215200	Weak transcription	Brain Angular Gyrus	brain
35	chr1:10207200-10219800	Weak transcription	Pancreas	Pancrea
36	chr1:10207200-10224400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:10207400-10220800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:10207400-10224800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr1:10208000-10214400	Weak transcription	Brain Germinal Matrix	brain
40	chr1:10209000-10213200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:10209200-10213200	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:10209200-10213800	Strong transcription	Placenta	Placenta
43	chr1:10209400-10213200	Strong transcription	Hela-S3	cervix
44	chr1:10209400-10213400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:10209400-10213400	Strong transcription	Liver	Liver
46	chr1:10209400-10213600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:10209600-10213200	Strong transcription	Primary T cells from cord blood	blood
48	chr1:10209600-10213600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:10209600-10218000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:10209800-10213600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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