Variant report

Variant	rs34927702
Chromosome Location	chr2:73800270-73800271
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	chr2:73777345..73779608-chr2:73798944..73801333,2	MCF-7	breast:
2	chr2:73793527..73795637-chr2:73799230..73800827,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11689978	1.00[EUR][1000 genomes]
rs11883989	1.00[EUR][1000 genomes]
rs11883997	1.00[EUR][1000 genomes]
rs11893899	1.00[EUR][1000 genomes]
rs28730851	1.00[EUR][1000 genomes]
rs35760114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56658499	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58830031	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59369402	1.00[EUR][1000 genomes]
rs60303012	1.00[EUR][1000 genomes]
rs6726975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6735006	1.00[EUR][1000 genomes]
rs6736726	1.00[EUR][1000 genomes]
rs6753922	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6755612	1.00[AMR][1000 genomes]
rs7563864	1.00[EUR][1000 genomes]
rs7571243	1.00[EUR][1000 genomes]
rs7573464	1.00[EUR][1000 genomes]
rs7589164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7597166	1.00[EUR][1000 genomes]
rs7600268	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7602957	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73731800-73807600	Weak transcription	Hela-S3	cervix
2	chr2:73759600-73828000	Weak transcription	Pancreas	Pancrea
3	chr2:73760600-73828000	Weak transcription	Right Ventricle	heart
4	chr2:73764600-73806800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:73764600-73807200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:73765200-73807800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:73765400-73808400	Weak transcription	HepG2	liver
8	chr2:73765800-73815400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:73765800-73837800	Weak transcription	Fetal Brain Male	brain
10	chr2:73766000-73807400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:73766400-73803200	Weak transcription	Fetal Intestine Large	intestine
12	chr2:73769200-73802800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:73775600-73811400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:73776000-73801200	Weak transcription	GM12878-XiMat	blood
15	chr2:73776000-73821600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:73776400-73807800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:73778600-73811400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:73778800-73806200	Weak transcription	Fetal Intestine Small	intestine
19	chr2:73782200-73811400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:73782600-73808000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:73784200-73808200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:73785200-73815400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:73785400-73838200	Weak transcription	Psoas Muscle	Psoas
24	chr2:73786200-73815400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:73786400-73800400	Weak transcription	Brain Substantia Nigra	brain
26	chr2:73787400-73809800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:73787800-73802200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:73787800-73807200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:73788000-73807000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:73788200-73802200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:73788200-73815200	Weak transcription	Brain Angular Gyrus	brain
32	chr2:73792200-73828600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:73792400-73801400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:73792600-73820800	Weak transcription	HSMMtube	muscle
35	chr2:73793800-73807800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:73797400-73828400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:73798400-73801400	Strong transcription	Dnd41	blood
38	chr2:73798600-73800800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:73798600-73801000	Weak transcription	NHLF	lung
40	chr2:73798600-73802600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:73798600-73808800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:73798800-73801400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:73798800-73801600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:73799000-73800400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:73799000-73800600	Strong transcription	Aorta	Aorta
46	chr2:73799000-73800800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:73799000-73800800	Strong transcription	Primary T cells from cord blood	blood
48	chr2:73799000-73801200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:73799200-73800800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr2:73799200-73801000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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