Variant report

Variant	rs11940915
Chromosome Location	chr4:144348596-144348597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144347593..144349547-chrX:153235032..153236546,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10085001	0.83[EUR][1000 genomes]
rs11933278	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11940828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17017770	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28755855	0.83[EUR][1000 genomes]
rs28924081	0.83[EUR][1000 genomes]
rs28924084	0.83[EUR][1000 genomes]
rs34140972	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57652703	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59649455	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60848167	1.00[EUR][1000 genomes]
rs6811304	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6815420	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6817754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6820204	0.83[EUR][1000 genomes]
rs6842199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6858550	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72936486	0.83[EUR][1000 genomes]
rs72949189	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72949196	1.00[EUR][1000 genomes]
rs72949200	1.00[EUR][1000 genomes]
rs7691050	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7695623	0.93[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	esv2757960	chr4:144348293-145131592	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2759288	chr4:144348293-145131592	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144318200-144362400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:144327800-144361200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:144327800-144388200	Weak transcription	HepG2	liver
4	chr4:144328000-144359200	Weak transcription	Esophagus	oesophagus
5	chr4:144329000-144359400	Weak transcription	K562	blood
6	chr4:144329800-144352600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:144332400-144359200	Weak transcription	Pancreas	Pancrea
8	chr4:144332800-144359200	Weak transcription	HMEC	breast
9	chr4:144333000-144358800	Weak transcription	Right Ventricle	heart
10	chr4:144333000-144364600	Weak transcription	NHEK	skin
11	chr4:144333200-144350600	Weak transcription	NHDF-Ad	bronchial
12	chr4:144333400-144350800	Weak transcription	Fetal Brain Male	brain
13	chr4:144333400-144359400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:144333400-144362400	Weak transcription	NH-A	brain
15	chr4:144333600-144359800	Weak transcription	HSMMtube	muscle
16	chr4:144333800-144348600	Weak transcription	Aorta	Aorta
17	chr4:144333800-144350600	Weak transcription	NHLF	lung
18	chr4:144334000-144359400	Weak transcription	HUVEC	blood vessel
19	chr4:144336400-144392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:144337000-144350600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:144338200-144350400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:144338600-144359200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr4:144339400-144348600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:144339400-144350400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:144339400-144350400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:144339400-144350800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:144339400-144394600	Weak transcription	Colonic Mucosa	Colon
28	chr4:144339600-144350400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:144339600-144350600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:144339600-144354600	Weak transcription	Placenta	Placenta
31	chr4:144339600-144359400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr4:144340000-144350600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:144340000-144359400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:144341800-144359400	Weak transcription	Psoas Muscle	Psoas
35	chr4:144342000-144382000	Weak transcription	Fetal Kidney	kidney
36	chr4:144342400-144350600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:144342600-144359200	Weak transcription	Colon Smooth Muscle	Colon
38	chr4:144342600-144359800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:144342800-144350600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:144343000-144351200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:144343200-144348800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:144344000-144350400	Weak transcription	Adipose Nuclei	Adipose
43	chr4:144344000-144363000	Weak transcription	Spleen	Spleen
44	chr4:144344200-144351000	Weak transcription	Fetal Heart	heart
45	chr4:144344600-144352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:144345600-144350400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:144345600-144359200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:144346000-144348600	Strong transcription	Fetal Stomach	stomach
49	chr4:144346000-144355000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:144346200-144350600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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