Variant report

Variant	rs72868235
Chromosome Location	chr2:153404283-153404284
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153398875..153400622-chr2:153402509..153405231,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1155778	0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1529998	0.96[ASN][1000 genomes]
rs16831263	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2577175	0.96[ASN][1000 genomes]
rs2577177	0.94[ASN][1000 genomes]
rs2577178	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2678294	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2678296	0.88[ASN][1000 genomes]
rs2678298	0.88[ASN][1000 genomes]
rs2678302	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34424354	1.00[AFR][1000 genomes]
rs4664594	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56281840	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6709843	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6713711	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6739300	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6739557	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7579511	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153392800-153404600	Weak transcription	Left Ventricle	heart
2	chr2:153398000-153406800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr2:153398200-153406400	Enhancers	Brain Angular Gyrus	brain
4	chr2:153398400-153405200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:153398800-153406200	Enhancers	Brain Hippocampus Middle	brain
6	chr2:153399000-153405200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:153399200-153407800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:153399200-153427800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:153399400-153414200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:153399400-153427600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:153399400-153429600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:153399600-153411800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:153399600-153415200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:153399600-153415400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:153399600-153415800	Weak transcription	Aorta	Aorta
16	chr2:153399800-153404400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:153400000-153405200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:153400000-153405600	Enhancers	Brain Anterior Caudate	brain
19	chr2:153400000-153405800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:153400000-153414000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:153400000-153415800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:153400000-153420800	Weak transcription	Hela-S3	cervix
23	chr2:153400000-153438000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:153400000-153468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:153400200-153406000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:153400200-153406400	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:153400200-153410600	Weak transcription	HSMMtube	muscle
28	chr2:153400200-153415400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:153400400-153411200	Weak transcription	A549	lung
30	chr2:153400600-153404400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:153400600-153404400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:153400600-153404400	Weak transcription	Fetal Kidney	kidney
33	chr2:153400600-153404400	Weak transcription	Osteobl	bone
34	chr2:153400600-153404600	Weak transcription	NHDF-Ad	bronchial
35	chr2:153400600-153405000	Weak transcription	NHLF	lung
36	chr2:153400600-153406200	Strong transcription	HepG2	liver
37	chr2:153400600-153411000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:153400600-153415200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:153400600-153433400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:153400600-153442000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:153401400-153404800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:153401600-153404600	Weak transcription	Adipose Nuclei	Adipose
43	chr2:153401600-153404800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:153401600-153405000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:153401600-153417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:153401800-153404600	Weak transcription	Fetal Lung	lung
47	chr2:153401800-153406800	Weak transcription	HUVEC	blood vessel
48	chr2:153402200-153405000	Enhancers	Psoas Muscle	Psoas
49	chr2:153402200-153411600	Weak transcription	Fetal Brain Male	brain
50	chr2:153402200-153427400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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