Variant report

Variant	rs72848617
Chromosome Location	chr2:128135108-128135109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128126951..128129831-chr2:128134353..128136995,2	K562	blood:
2	chr2:128134729..128136295-chr2:128142801..128146592,3	MCF-7	breast:
3	chr2:128134248..128137306-chr2:128140414..128142946,3	K562	blood:
4	chr2:128134227..128136528-chr2:128137224..128139404,2	K562	blood:

Variant related genes	Relation type
ENSG00000169967	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1803541	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2069892	0.83[EUR][1000 genomes]
rs2069907	0.83[EUR][1000 genomes]
rs2069934	0.83[EUR][1000 genomes]
rs2069939	0.83[EUR][1000 genomes]
rs3732210	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4150459	0.95[EUR][1000 genomes]
rs4150460	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4150468	0.95[EUR][1000 genomes]
rs4150480	0.95[EUR][1000 genomes]
rs4662574	0.81[EUR][1000 genomes]
rs55693032	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55871356	1.00[EUR][1000 genomes]
rs55926979	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56000604	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56033800	1.00[EUR][1000 genomes]
rs56226037	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56287237	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56373535	0.95[EUR][1000 genomes]
rs56383408	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58877895	0.95[EUR][1000 genomes]
rs6708102	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6737103	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6755703	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845924	0.83[EUR][1000 genomes]
rs72845929	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72845937	0.85[EUR][1000 genomes]
rs72845942	0.90[EUR][1000 genomes]
rs72845943	0.90[EUR][1000 genomes]
rs72845953	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845958	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845960	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845961	0.88[EUR][1000 genomes]
rs72845963	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845964	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845966	0.95[EUR][1000 genomes]
rs72845967	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845968	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845969	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845970	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845971	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845972	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845973	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72845978	0.95[EUR][1000 genomes]
rs72845980	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845983	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845984	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845988	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845989	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845992	0.95[EUR][1000 genomes]
rs72845995	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845996	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845998	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845999	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72846001	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72848605	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848607	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848610	0.98[EUR][1000 genomes]
rs72848614	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848619	1.00[EUR][1000 genomes]
rs72848621	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848623	1.00[EUR][1000 genomes]
rs72848624	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848625	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848626	1.00[EUR][1000 genomes]
rs72848627	1.00[EUR][1000 genomes]
rs72848628	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848629	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848630	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72848635	1.00[EUR][1000 genomes]
rs72848637	0.95[EUR][1000 genomes]
rs72848642	0.95[EUR][1000 genomes]
rs72848645	0.83[EUR][1000 genomes]
rs72848646	0.83[EUR][1000 genomes]
rs72848648	0.83[EUR][1000 genomes]
rs72848651	0.83[EUR][1000 genomes]
rs7559907	0.90[EUR][1000 genomes]
rs7581386	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7591595	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7591718	0.83[EUR][1000 genomes]
rs7599334	0.83[EUR][1000 genomes]
rs8179521	0.95[EUR][1000 genomes]

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128107800-128140200	Weak transcription	Gastric	stomach
2	chr2:128120800-128139200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:128120800-128142000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:128121200-128135200	Weak transcription	Osteobl	bone
5	chr2:128122200-128142200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:128123400-128135200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:128123400-128137600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:128123400-128140400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:128123400-128144200	Weak transcription	Colonic Mucosa	Colon
10	chr2:128124000-128140000	Weak transcription	Left Ventricle	heart
11	chr2:128124400-128136200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:128125800-128136400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:128127200-128135600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:128127200-128136000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:128128000-128144000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:128128000-128144000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:128128400-128142200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:128128600-128140000	Weak transcription	Aorta	Aorta
19	chr2:128129400-128135200	Weak transcription	NHDF-Ad	bronchial
20	chr2:128129600-128135200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:128129800-128140200	Weak transcription	Right Ventricle	heart
22	chr2:128130200-128137400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:128131200-128135600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:128131800-128137400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:128131800-128139200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:128132200-128135400	Weak transcription	Primary T cells from cord blood	blood
27	chr2:128132400-128140800	Weak transcription	Fetal Lung	lung
28	chr2:128132600-128135400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:128132800-128135400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:128132800-128144000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:128133200-128135600	ZNF genes & repeats	Dnd41	blood
32	chr2:128133200-128142400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:128133800-128139200	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:128134000-128135400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr2:128134200-128136600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:128134200-128140200	Weak transcription	Ovary	ovary
37	chr2:128134200-128141400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:128134400-128135200	Weak transcription	Liver	Liver
39	chr2:128134400-128135400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:128134400-128135400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:128134400-128137400	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:128134400-128140000	Weak transcription	Psoas Muscle	Psoas
43	chr2:128134400-128140200	Weak transcription	Lung	lung
44	chr2:128134400-128142200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:128134400-128144000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:128134600-128135200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:128134600-128135200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:128134600-128135200	Weak transcription	Primary B cells from cord blood	blood
49	chr2:128134600-128135400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:128134600-128135400	Weak transcription	Fetal Muscle Trunk	muscle

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