Variant report

Variant	rs4814259
Chromosome Location	chr20:13770075-13770076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:13769397..13772181-chr20:13776678..13779154,2	K562	blood:
2	chr20:13768422..13770202-chr20:13776698..13778649,2	K562	blood:
3	chr20:13769039..13770895-chr20:13773639..13775418,2	K562	blood:
4	chr20:13769074..13771240-chr20:13798879..13801315,2	K562	blood:

Variant related genes	Relation type
ENSG00000101247	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2094652	0.90[AFR][1000 genomes]
rs2423754	0.85[AFR][1000 genomes]
rs4814255	0.83[AFR][1000 genomes]
rs4814257	0.85[AFR][1000 genomes]
rs6033822	0.90[AFR][1000 genomes]
rs6042344	0.83[AFR][1000 genomes]
rs6074639	0.85[AFR][1000 genomes]
rs6079175	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
6	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
7	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
8	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13766400-13793800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:13766400-13796800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:13766600-13772200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr20:13766800-13770400	Weak transcription	Lung	lung
5	chr20:13766800-13781400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:13767000-13770600	Weak transcription	Colonic Mucosa	Colon
7	chr20:13767200-13770200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr20:13767200-13770800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr20:13767200-13771000	Weak transcription	Primary B cells from cord blood	blood
10	chr20:13767200-13771400	Weak transcription	Fetal Kidney	kidney
11	chr20:13767400-13770400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr20:13767400-13770400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr20:13767400-13770800	Weak transcription	Ovary	ovary
14	chr20:13767400-13771000	Weak transcription	Aorta	Aorta
15	chr20:13767400-13771400	Weak transcription	Right Ventricle	heart
16	chr20:13767400-13771800	Weak transcription	Pancreas	Pancrea
17	chr20:13767400-13772400	Weak transcription	Esophagus	oesophagus
18	chr20:13767400-13792600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr20:13767600-13770400	Weak transcription	Brain Hippocampus Middle	brain
20	chr20:13767600-13770400	Weak transcription	Psoas Muscle	Psoas
21	chr20:13767600-13770400	Weak transcription	NHLF	lung
22	chr20:13767600-13770600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr20:13767600-13770600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr20:13767600-13770600	Weak transcription	Brain Germinal Matrix	brain
25	chr20:13767600-13770600	Weak transcription	NHDF-Ad	bronchial
26	chr20:13767600-13770800	Weak transcription	Brain Anterior Caudate	brain
27	chr20:13767600-13771200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr20:13767600-13772400	Weak transcription	Right Atrium	heart
29	chr20:13767600-13775200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr20:13767600-13775200	Weak transcription	Small Intestine	intestine
31	chr20:13767600-13789800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr20:13767600-13799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:13767800-13770400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr20:13767800-13770800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr20:13767800-13770800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr20:13767800-13771400	Strong transcription	Left Ventricle	heart
37	chr20:13767800-13799400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr20:13767800-13800600	Weak transcription	Stomach Mucosa	stomach
39	chr20:13768000-13770200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr20:13768000-13770400	Weak transcription	Brain Substantia Nigra	brain
41	chr20:13768000-13770400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr20:13768000-13771800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr20:13768000-13773400	Strong transcription	HUVEC	blood vessel
44	chr20:13768000-13778400	Strong transcription	Fetal Muscle Leg	muscle
45	chr20:13768000-13780600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr20:13768000-13781400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr20:13768000-13786000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr20:13768000-13794800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr20:13768000-13799800	Strong transcription	Fetal Thymus	thymus
50	chr20:13768200-13770200	Weak transcription	HMEC	breast

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