Variant report

Variant	rs12644988
Chromosome Location	chr4:77878410-77878411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77877093..77879244-chr4:77894823..77897466,2	K562	blood:
2	chr4:77874825..77878448-chr4:77879255..77881107,3	MCF-7	breast:
3	chr4:77875173..77878998-chr4:77899246..77901954,4	K562	blood:
4	chr4:77876919..77878897-chr6:107196410..107199207,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234036	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12648488	1.00[ASN][1000 genomes]
rs4252880	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1810313	chr4:77778670-77902099	Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77872600-77878600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:77872600-77881400	Weak transcription	Esophagus	oesophagus
3	chr4:77872600-77882000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:77872600-77890800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:77872600-77894400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:77872600-77899200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:77872600-77900400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:77872800-77881200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:77873000-77883400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:77873000-77885800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:77873000-77899200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:77873200-77881000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:77873400-77884000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:77873400-77894200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:77873400-77894400	Weak transcription	NHEK	skin
16	chr4:77874200-77878600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:77874200-77878800	Enhancers	Adipose Nuclei	Adipose
18	chr4:77874200-77881400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:77874200-77885600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:77874400-77891000	Weak transcription	K562	blood
21	chr4:77874800-77879000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:77875400-77884400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:77875600-77878800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:77875600-77879600	Genic enhancers	NHLF	lung
25	chr4:77875800-77878800	Enhancers	Fetal Kidney	kidney
26	chr4:77875800-77880600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:77876000-77878600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:77876000-77878600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:77876000-77878600	Enhancers	Brain Substantia Nigra	brain
30	chr4:77876000-77881200	Weak transcription	Brain Anterior Caudate	brain
31	chr4:77876000-77887200	Weak transcription	HMEC	breast
32	chr4:77876000-77895200	Weak transcription	Aorta	Aorta
33	chr4:77876200-77878600	Genic enhancers	HSMMtube	muscle
34	chr4:77876400-77879600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr4:77876400-77891200	Weak transcription	HUVEC	blood vessel
36	chr4:77876600-77878600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:77876600-77878800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:77876600-77879400	Weak transcription	Left Ventricle	heart
39	chr4:77876600-77880400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:77876600-77883600	Weak transcription	Brain Angular Gyrus	brain
41	chr4:77876600-77887200	Weak transcription	Psoas Muscle	Psoas
42	chr4:77876600-77895400	Weak transcription	Right Atrium	heart
43	chr4:77876800-77878600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:77876800-77878800	Enhancers	Brain Germinal Matrix	brain
45	chr4:77876800-77881600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:77876800-77906000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:77877000-77880600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:77877000-77882400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:77877400-77879000	Enhancers	Small Intestine	intestine
50	chr4:77877400-77879800	Enhancers	Fetal Intestine Large	intestine

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