Variant report

Variant	rs11881107
Chromosome Location	chr19:21346504-21346505
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21329795..21332186-chr19:21344748..21346568,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12052171	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12151204	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16997503	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17445374	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17445381	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57941450	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58095420	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59436607	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60870377	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67716442	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7256860	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73028563	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73028565	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73028577	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs995655	0.81[AMR][1000 genomes];0.84[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	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS 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	25 gene(s)	inside rSNPs	diseases
3	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21325400-21361800	Weak transcription	Small Intestine	intestine
2	chr19:21325600-21365800	Weak transcription	Brain Angular Gyrus	brain
3	chr19:21326000-21352600	Weak transcription	Right Ventricle	heart
4	chr19:21326000-21361000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:21326800-21361800	Weak transcription	Stomach Mucosa	stomach
6	chr19:21327000-21347000	Weak transcription	Hela-S3	cervix
7	chr19:21331000-21371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:21332800-21356400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:21333000-21350000	Weak transcription	Fetal Kidney	kidney
10	chr19:21333000-21373000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:21333200-21347000	Weak transcription	Gastric	stomach
12	chr19:21333200-21357400	Weak transcription	Pancreas	Pancrea
13	chr19:21333400-21364800	Weak transcription	HUVEC	blood vessel
14	chr19:21334600-21360800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:21335000-21365000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:21335800-21348200	Weak transcription	Brain Substantia Nigra	brain
17	chr19:21335800-21357000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:21335800-21362800	Weak transcription	Psoas Muscle	Psoas
19	chr19:21336000-21357800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:21336000-21362000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:21336200-21349800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr19:21336200-21349800	Weak transcription	Fetal Lung	lung
23	chr19:21336200-21350000	Weak transcription	Adipose Nuclei	Adipose
24	chr19:21336200-21350000	Weak transcription	Placenta	Placenta
25	chr19:21336200-21350400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:21336200-21351800	Weak transcription	Brain Anterior Caudate	brain
27	chr19:21336200-21352200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:21336200-21361800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr19:21336200-21361800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr19:21336400-21349400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:21336600-21360600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:21337000-21357000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr19:21338200-21347600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr19:21338200-21354400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:21338400-21347200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:21338600-21347800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr19:21339000-21348400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr19:21339200-21349000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:21339200-21354200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:21339400-21361000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:21339400-21361000	Weak transcription	NHDF-Ad	bronchial
42	chr19:21340200-21349400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:21340400-21347800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr19:21340400-21349000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:21340800-21352200	Weak transcription	Brain Hippocampus Middle	brain
46	chr19:21341600-21347800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:21341800-21348400	Weak transcription	NHEK	skin
48	chr19:21341800-21361600	Weak transcription	Colon Smooth Muscle	Colon
49	chr19:21342000-21349800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr19:21342000-21350200	Weak transcription	Osteobl	bone

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