Variant report

Variant	rs11881355
Chromosome Location	chr19:44554821-44554822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:44554632-44554832	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44554677..44558669-chr19:44574332..44578828,6	MCF-7	breast:

Variant related genes	Relation type
ZNF223	TF binding region
ENSG00000186026	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10164312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10164320	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10401773	1.00[EUR][1000 genomes]
rs10404050	1.00[EUR][1000 genomes]
rs10404791	1.00[EUR][1000 genomes]
rs10404999	1.00[EUR][1000 genomes]
rs10405366	1.00[EUR][1000 genomes]
rs10409400	1.00[EUR][1000 genomes]
rs10409475	1.00[EUR][1000 genomes]
rs10415885	1.00[EUR][1000 genomes]
rs10416649	1.00[EUR][1000 genomes]
rs10420015	1.00[EUR][1000 genomes]
rs11878317	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878320	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11879265	1.00[EUR][1000 genomes]
rs11879733	1.00[EUR][1000 genomes]
rs11880330	1.00[EUR][1000 genomes]
rs11880794	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880826	1.00[EUR][1000 genomes]
rs11882281	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883048	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11883052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883398	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12983129	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343401	1.00[EUR][1000 genomes]
rs13345060	1.00[EUR][1000 genomes]
rs13345516	1.00[EUR][1000 genomes]
rs16976891	1.00[EUR][1000 genomes]
rs16976894	1.00[EUR][1000 genomes]
rs28591400	1.00[EUR][1000 genomes]
rs34863330	1.00[EUR][1000 genomes]
rs55852649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57614626	1.00[EUR][1000 genomes]
rs57796743	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57956437	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58056761	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58271953	1.00[EUR][1000 genomes]
rs58935748	1.00[EUR][1000 genomes]
rs59205113	1.00[EUR][1000 genomes]
rs59926292	1.00[EUR][1000 genomes]
rs60064087	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60833312	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61233555	1.00[EUR][1000 genomes]
rs7253031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254182	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7256304	1.00[EUR][1000 genomes]
rs73554168	1.00[EUR][1000 genomes]
rs73556256	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556274	1.00[EUR][1000 genomes]
rs73556277	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556279	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73556299	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558203	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558211	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558212	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73558215	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558217	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558221	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558222	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558227	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558248	1.00[EUR][1000 genomes]
rs73558256	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558264	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558286	1.00[EUR][1000 genomes]
rs73558298	1.00[EUR][1000 genomes]
rs73558301	1.00[EUR][1000 genomes]
rs73562181	1.00[EUR][1000 genomes]
rs73562184	1.00[EUR][1000 genomes]
rs73562187	1.00[EUR][1000 genomes]
rs73562192	1.00[EUR][1000 genomes]
rs73562196	1.00[EUR][1000 genomes]
rs73564015	1.00[EUR][1000 genomes]
rs73932846	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8100990	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101607	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102859	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44553600-44555200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:44554200-44555400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:44554400-44555000	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:44554600-44555000	Active TSS	Primary hematopoietic stem cells	blood
5	chr19:44554600-44555200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:44554600-44555800	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr19:44554600-44556000	Flanking Active TSS	NHEK	skin
8	chr19:44554800-44555000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr19:44554800-44555000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr19:44554800-44555000	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr19:44554800-44555000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:44554800-44555000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:44554800-44555000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
14	chr19:44554800-44555000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:44554800-44555000	Flanking Active TSS	Fetal Intestine Large	intestine
16	chr19:44554800-44555000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr19:44554800-44555000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
18	chr19:44554800-44555000	Enhancers	HMEC	breast
19	chr19:44554800-44555000	Bivalent Enhancer	NHDF-Ad	bronchial
20	chr19:44554800-44555200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr19:44554800-44555200	Enhancers	Primary B cells from peripheral blood	blood
22	chr19:44554800-44555200	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr19:44554800-44555200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr19:44554800-44555200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:44554800-44555200	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr19:44554800-44555200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr19:44554800-44555200	Active TSS	Right Atrium	heart
28	chr19:44554800-44555400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:44554800-44555400	Flanking Bivalent TSS/Enh	Liver	Liver
30	chr19:44554800-44555400	Active TSS	Brain Angular Gyrus	brain
31	chr19:44554800-44555400	Active TSS	Rectal Smooth Muscle	rectum
32	chr19:44554800-44555800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr19:44554800-44556000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:44554800-44556000	ZNF genes & repeats	GM12878-XiMat	blood
35	chr19:44554800-44556400	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr19:44554800-44556800	Active TSS	H1 Cell Line	embryonic stem cell
37	chr19:44554800-44556800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr19:44554800-44556800	Active TSS	Psoas Muscle	Psoas
39	chr19:44554800-44557000	Active TSS	Colonic Mucosa	Colon
40	chr19:44554800-44557000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr19:44554800-44557200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr19:44554800-44557200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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