Variant report

Variant	rs2378842
Chromosome Location	chr1:184366202-184366203
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184355502..184358057-chr1:184363733..184366912,4	MCF-7	breast:
2	chr1:184366042..184368349-chr1:184378843..184381594,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116667	Chromatin interaction
ENSG00000271387	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16823065	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16823118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16823145	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2207524	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3814334	1.00[CHB][hapmap]
rs3922451	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57590305	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58863963	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59158738	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59237100	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59598210	0.89[ASN][1000 genomes]
rs60066136	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6424951	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6659461	0.86[ASN][1000 genomes]
rs6695258	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6698504	1.00[JPT][hapmap]
rs73061677	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73061691	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73063504	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73063508	0.88[AFR][1000 genomes]
rs7525041	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7540074	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7550032	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184358000-184373400	Weak transcription	Ovary	ovary
2	chr1:184358200-184372200	Weak transcription	Fetal Kidney	kidney
3	chr1:184358200-184374000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:184358400-184378200	Weak transcription	Brain Angular Gyrus	brain
5	chr1:184359000-184368600	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:184359000-184382800	Weak transcription	Fetal Stomach	stomach
7	chr1:184359400-184377000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:184359600-184371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:184359600-184377000	Weak transcription	A549	lung
10	chr1:184359600-184391200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:184359800-184366400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:184360200-184371800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:184360600-184367200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:184360600-184386200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:184360800-184368200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:184362400-184374800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:184362600-184368200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:184362600-184368400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:184362600-184368600	Weak transcription	Right Ventricle	heart
20	chr1:184362600-184374000	Weak transcription	Esophagus	oesophagus
21	chr1:184362600-184374400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:184362600-184377000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:184362600-184386200	Weak transcription	Lung	lung
24	chr1:184362800-184374200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:184363200-184367600	Enhancers	Psoas Muscle	Psoas
26	chr1:184363600-184368000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:184363600-184368800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:184363800-184368600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:184364000-184368600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:184364200-184367000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:184364200-184368600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:184364200-184372000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:184364800-184367200	Weak transcription	Left Ventricle	heart
34	chr1:184364800-184373600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:184365000-184367000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:184365000-184367200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:184365000-184368600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:184365000-184368600	Weak transcription	HMEC	breast
39	chr1:184365000-184371800	Weak transcription	Right Atrium	heart
40	chr1:184365000-184378200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:184365200-184376800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:184365400-184367200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:184365400-184367400	Weak transcription	NHEK	skin
44	chr1:184365400-184369400	Weak transcription	Fetal Heart	heart
45	chr1:184365400-184371800	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:184365600-184368400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:184365600-184368600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:184365600-184373400	Weak transcription	Small Intestine	intestine

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