Variant report

Variant	rs2678305
Chromosome Location	chr2:153403715-153403716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153401629..153403844-chr2:153404916..153407132,2	MCF-7	breast:
2	chr2:153398875..153400622-chr2:153402509..153405231,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10180234	0.88[ASN][1000 genomes]
rs10207275	0.88[ASN][1000 genomes]
rs1545134	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16831261	0.85[ASN][1000 genomes]
rs16831265	0.85[ASN][1000 genomes]
rs2346181	0.88[ASN][1000 genomes]
rs2459776	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577175	0.84[AMR][1000 genomes]
rs2577176	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2577177	0.80[AMR][1000 genomes]
rs2577180	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2577181	0.88[ASN][1000 genomes]
rs2678303	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2678304	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6717982	0.82[ASN][1000 genomes]
rs6720532	0.88[ASN][1000 genomes]
rs6721601	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73002191	0.85[ASN][1000 genomes]
rs7421149	0.85[ASN][1000 genomes]
rs7591606	0.85[ASN][1000 genomes]
rs7595822	0.85[ASN][1000 genomes]
rs9967814	0.85[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	chr2:153391400-153403800	Weak transcription	Fetal Brain Female	brain
2	chr2:153392800-153404600	Weak transcription	Left Ventricle	heart
3	chr2:153398000-153406800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr2:153398200-153406400	Enhancers	Brain Angular Gyrus	brain
5	chr2:153398400-153405200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:153398600-153404000	Weak transcription	Gastric	stomach
7	chr2:153398800-153406200	Enhancers	Brain Hippocampus Middle	brain
8	chr2:153399000-153405200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:153399200-153407800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:153399200-153427800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:153399400-153414200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:153399400-153427600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:153399400-153429600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:153399600-153411800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:153399600-153415200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:153399600-153415400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:153399600-153415800	Weak transcription	Aorta	Aorta
18	chr2:153399800-153404400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:153400000-153405200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:153400000-153405600	Enhancers	Brain Anterior Caudate	brain
21	chr2:153400000-153405800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:153400000-153414000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:153400000-153415800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:153400000-153420800	Weak transcription	Hela-S3	cervix
25	chr2:153400000-153438000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:153400000-153468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:153400200-153406000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:153400200-153406400	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:153400200-153410600	Weak transcription	HSMMtube	muscle
30	chr2:153400200-153415400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:153400400-153411200	Weak transcription	A549	lung
32	chr2:153400600-153404000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:153400600-153404400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:153400600-153404400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:153400600-153404400	Weak transcription	Fetal Kidney	kidney
36	chr2:153400600-153404400	Weak transcription	Osteobl	bone
37	chr2:153400600-153404600	Weak transcription	NHDF-Ad	bronchial
38	chr2:153400600-153405000	Weak transcription	NHLF	lung
39	chr2:153400600-153406200	Strong transcription	HepG2	liver
40	chr2:153400600-153411000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:153400600-153415200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:153400600-153433400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:153400600-153442000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:153401400-153404800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:153401600-153404600	Weak transcription	Adipose Nuclei	Adipose
46	chr2:153401600-153404800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:153401600-153405000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr2:153401600-153417400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:153401800-153404200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:153401800-153404200	Weak transcription	HMEC	breast

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