Variant report

Variant	rs12648488
Chromosome Location	chr4:77875919-77875920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77874825..77878448-chr4:77879255..77881107,3	MCF-7	breast:
2	chr4:77875173..77877456-chr4:77900454..77902686,2	K562	blood:
3	chr4:77875173..77878998-chr4:77899246..77901954,4	K562	blood:
4	chr4:77817731..77819270-chr4:77874790..77876988,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186212	Chromatin interaction
ENSG00000234036	Chromatin interaction

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

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

rs_ID	r²[population]
rs12644988	1.00[ASN][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	nsv829973	chr4:77684251-77877361	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77872400-77877600	Weak transcription	Lung	lung
2	chr4:77872600-77876200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:77872600-77877600	Weak transcription	Gastric	stomach
4	chr4:77872600-77878600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:77872600-77881400	Weak transcription	Esophagus	oesophagus
6	chr4:77872600-77882000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:77872600-77890800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:77872600-77894400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:77872600-77899200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:77872600-77900400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:77872800-77877200	Enhancers	Fetal Lung	lung
12	chr4:77872800-77877800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:77872800-77881200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr4:77873000-77877400	Weak transcription	Fetal Intestine Large	intestine
15	chr4:77873000-77877600	Weak transcription	Colonic Mucosa	Colon
16	chr4:77873000-77877600	Weak transcription	Fetal Intestine Small	intestine
17	chr4:77873000-77878200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr4:77873000-77878400	Weak transcription	A549	lung
19	chr4:77873000-77883400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:77873000-77885800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:77873000-77899200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:77873200-77876000	Enhancers	Brain Anterior Caudate	brain
23	chr4:77873200-77881000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:77873400-77876000	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr4:77873400-77876400	Enhancers	HUVEC	blood vessel
26	chr4:77873400-77878000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:77873400-77878400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:77873400-77878400	Weak transcription	Stomach Mucosa	stomach
29	chr4:77873400-77884000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:77873400-77894200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:77873400-77894400	Weak transcription	NHEK	skin
32	chr4:77873600-77877800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:77873600-77878000	Genic enhancers	Fetal Muscle Leg	muscle
34	chr4:77873800-77877400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:77873800-77878400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:77874000-77876200	Enhancers	Fetal Stomach	stomach
37	chr4:77874000-77876600	Enhancers	Psoas Muscle	Psoas
38	chr4:77874000-77877600	Weak transcription	HepG2	liver
39	chr4:77874200-77876600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:77874200-77878400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:77874200-77878600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr4:77874200-77878800	Enhancers	Adipose Nuclei	Adipose
43	chr4:77874200-77881400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:77874200-77885600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:77874400-77876000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:77874400-77876200	Genic enhancers	HSMM	muscle
47	chr4:77874400-77876600	Genic enhancers	NH-A	brain
48	chr4:77874400-77877600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:77874400-77878400	Enhancers	Fetal Brain Male	brain
50	chr4:77874400-77891000	Weak transcription	K562	blood

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