Variant report

Variant	rs6722156
Chromosome Location	chr2:54815621-54815622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54783987..54787753-chr2:54814113..54820814,10	K562	blood:
2	chr2:54800828..54802394-chr2:54814892..54816682,2	K562	blood:
3	chr2:54815292..54817560-chr2:54840163..54841990,2	K562	blood:
4	chr2:54814029..54817875-chr2:54846911..54850562,3	K562	blood:
5	chr2:54790537..54793498-chr2:54814882..54817196,2	MCF-7	breast:
6	chr2:54815000..54820095-chr2:54820709..54825309,10	K562	blood:
7	chr2:54783797..54785815-chr2:54814403..54816719,2	K562	blood:
8	chr2:54811733..54813663-chr2:54814407..54817316,2	MCF-7	breast:
9	chr2:54764181..54766561-chr2:54813594..54815881,2	K562	blood:
10	chr2:54815022..54818519-chr2:54825874..54828742,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6728905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54802000-54816400	Enhancers	Liver	Liver
2	chr2:54802200-54822600	Weak transcription	Esophagus	oesophagus
3	chr2:54804000-54822400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:54805400-54815800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:54805400-54830200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:54805600-54819800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:54807000-54826000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:54807200-54815800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:54807200-54816400	Weak transcription	Aorta	Aorta
10	chr2:54807200-54819800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:54807800-54816200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:54807800-54818800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:54808400-54816800	Enhancers	Brain Anterior Caudate	brain
14	chr2:54808800-54815800	Weak transcription	Placenta	Placenta
15	chr2:54808800-54822800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:54809400-54816200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:54809400-54816400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:54809400-54816400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:54809400-54816400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:54809400-54821600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:54809600-54816200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:54809600-54825800	Weak transcription	Brain Germinal Matrix	brain
23	chr2:54810000-54816400	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:54810400-54815800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:54810400-54816400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:54811000-54815800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:54811200-54816400	Enhancers	Hela-S3	cervix
28	chr2:54811400-54816400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:54811400-54816400	Enhancers	Fetal Thymus	thymus
30	chr2:54811400-54817200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:54811400-54819400	Enhancers	Stomach Mucosa	stomach
32	chr2:54811600-54818400	Enhancers	Brain Substantia Nigra	brain
33	chr2:54811600-54819200	Enhancers	Fetal Heart	heart
34	chr2:54811800-54816200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr2:54811800-54816600	Enhancers	Left Ventricle	heart
36	chr2:54811800-54818800	Enhancers	Brain Hippocampus Middle	brain
37	chr2:54812000-54816400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr2:54812800-54816200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:54813200-54817800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:54813200-54818000	Enhancers	Brain Cingulate Gyrus	brain
41	chr2:54813400-54816400	Enhancers	HUVEC	blood vessel
42	chr2:54813400-54816400	Weak transcription	NHLF	lung
43	chr2:54813600-54815800	Weak transcription	NHEK	skin
44	chr2:54813600-54818000	Enhancers	Brain Angular Gyrus	brain
45	chr2:54813800-54815800	Genic enhancers	Primary hematopoietic stem cells	blood
46	chr2:54813800-54815800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:54813800-54815800	Genic enhancers	HepG2	liver
48	chr2:54813800-54816400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:54814000-54815800	Strong transcription	Fetal Lung	lung
50	chr2:54814000-54816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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