Variant report

Variant	rs4749229
Chromosome Location	chr10:27441120-27441121
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:27422371..27425893-chr10:27437367..27441285,4	K562	blood:
2	chr10:27426913..27428893-chr10:27439764..27442698,2	MCF-7	breast:
3	chr10:27441114..27446089-chr10:27527560..27532728,23	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107897	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000136758	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11015447	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11015449	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11015546	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12411984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12414273	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12415376	1.00[AFR][1000 genomes]
rs12415390	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs12416077	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12416080	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12569491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12570065	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12570662	0.88[JPT][hapmap];1.00[AFR][1000 genomes]
rs12571529	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572302	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12572325	0.82[JPT][hapmap];1.00[AFR][1000 genomes]
rs12572707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12572862	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes]
rs12573268	0.82[ASN][1000 genomes]
rs1329993	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2297144	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28365962	0.98[ASN][1000 genomes]
rs3758404	0.95[ASN][1000 genomes]
rs3780924	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3780925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781101	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3781102	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3802526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3818633	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3824592	0.98[ASN][1000 genomes]
rs3824690	1.00[AFR][1000 genomes]
rs4747586	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4749222	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4749227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4749234	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73598035	0.98[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	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27389800-27441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:27390000-27442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:27419400-27441400	Weak transcription	Stomach Mucosa	stomach
4	chr10:27428000-27441400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:27431800-27442000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr10:27432800-27441400	Weak transcription	Psoas Muscle	Psoas
7	chr10:27435600-27442400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:27436800-27441400	Weak transcription	Small Intestine	intestine
9	chr10:27437000-27441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:27437000-27441200	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:27437000-27441200	Weak transcription	HepG2	liver
12	chr10:27437000-27441200	Weak transcription	NHLF	lung
13	chr10:27437000-27441600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:27437200-27441600	Weak transcription	Colonic Mucosa	Colon
15	chr10:27437400-27441200	Weak transcription	Brain Germinal Matrix	brain
16	chr10:27437400-27441400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr10:27437400-27441600	Weak transcription	Aorta	Aorta
18	chr10:27437400-27442600	Weak transcription	Gastric	stomach
19	chr10:27437400-27442800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:27437600-27441200	Weak transcription	Brain Angular Gyrus	brain
21	chr10:27437600-27441200	Weak transcription	Fetal Kidney	kidney
22	chr10:27437600-27441200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:27437600-27441200	Weak transcription	HMEC	breast
24	chr10:27437600-27441400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:27437600-27441400	Weak transcription	HSMMtube	muscle
26	chr10:27437800-27441400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr10:27438000-27441200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr10:27438000-27441200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:27438000-27441200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr10:27438000-27441200	Weak transcription	Primary B cells from cord blood	blood
31	chr10:27438000-27441200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:27438000-27441200	Weak transcription	Brain Anterior Caudate	brain
33	chr10:27438000-27441200	Weak transcription	Brain Hippocampus Middle	brain
34	chr10:27438000-27441200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr10:27438000-27441200	Weak transcription	Brain Substantia Nigra	brain
36	chr10:27438000-27441200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr10:27438000-27441200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr10:27438000-27441200	Weak transcription	Fetal Lung	lung
39	chr10:27438000-27441200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr10:27438000-27441200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr10:27438000-27441200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr10:27438000-27441200	Weak transcription	A549	lung
43	chr10:27438000-27441200	Weak transcription	HUVEC	blood vessel
44	chr10:27438000-27441200	Weak transcription	Osteobl	bone
45	chr10:27438000-27441400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr10:27438000-27441400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr10:27438000-27441400	Weak transcription	Right Ventricle	heart
48	chr10:27438000-27441600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:27438000-27441600	Weak transcription	Fetal Muscle Leg	muscle
50	chr10:27438000-27442000	Weak transcription	Lung	lung

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