Variant report

Variant	rs2327796
Chromosome Location	chr20:13712753-13712754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:13711489..13714025-chr20:13765130..13767915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101247	Chromatin interaction
ENSG00000089048	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2094652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2423754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs243917	1.00[EUR][1000 genomes]
rs34901599	1.00[AMR][1000 genomes]
rs4239710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4814255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4814257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6033822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042344	1.00[AMR][1000 genomes]
rs6074639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6079175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking 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	4 gene(s)	inside rSNPs	diseases
4	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1061323	chr20:13551004-13746346	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13692200-13745000	Weak transcription	Small Intestine	intestine
2	chr20:13692400-13717600	Strong transcription	Dnd41	blood
3	chr20:13693000-13721400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr20:13693000-13746400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr20:13694400-13748000	Weak transcription	Gastric	stomach
6	chr20:13694600-13764400	Weak transcription	Stomach Mucosa	stomach
7	chr20:13694800-13718200	Weak transcription	Psoas Muscle	Psoas
8	chr20:13696000-13715600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr20:13697200-13745000	Weak transcription	Colonic Mucosa	Colon
10	chr20:13697600-13745800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr20:13698200-13713000	Weak transcription	Brain Anterior Caudate	brain
12	chr20:13698400-13739000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr20:13698600-13725400	Weak transcription	Hela-S3	cervix
14	chr20:13699400-13715600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr20:13700800-13714400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr20:13700800-13728400	Weak transcription	Fetal Heart	heart
17	chr20:13702400-13717400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr20:13705000-13714800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr20:13705400-13715200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:13705600-13715400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr20:13706200-13712800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr20:13706400-13720400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr20:13706600-13712800	Weak transcription	NH-A	brain
24	chr20:13707200-13721400	Weak transcription	Aorta	Aorta
25	chr20:13707200-13721600	Weak transcription	NHLF	lung
26	chr20:13708800-13721800	Weak transcription	Fetal Brain Male	brain
27	chr20:13709000-13712800	Weak transcription	HUVEC	blood vessel
28	chr20:13709000-13712800	Weak transcription	K562	blood
29	chr20:13709000-13713000	Weak transcription	Primary B cells from cord blood	blood
30	chr20:13709000-13713800	Weak transcription	Fetal Kidney	kidney
31	chr20:13709200-13713000	Weak transcription	NHDF-Ad	bronchial
32	chr20:13709200-13721600	Weak transcription	HMEC	breast
33	chr20:13711200-13714200	Strong transcription	Fetal Intestine Large	intestine
34	chr20:13711200-13714400	Strong transcription	Fetal Muscle Leg	muscle
35	chr20:13711200-13715400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr20:13711400-13713400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr20:13711400-13714400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr20:13711400-13714400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr20:13711400-13714400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr20:13711400-13714600	Strong transcription	GM12878-XiMat	blood
41	chr20:13711400-13714600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr20:13711400-13715200	Strong transcription	HSMM	muscle
43	chr20:13711400-13715400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr20:13711600-13714200	Strong transcription	Brain Cingulate Gyrus	brain
45	chr20:13711600-13714200	Strong transcription	Fetal Intestine Small	intestine
46	chr20:13711600-13714200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr20:13711600-13714400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr20:13711600-13714400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr20:13711600-13714400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr20:13711600-13714400	Strong transcription	Fetal Brain Female	brain

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