Variant report

Variant	rs11879586
Chromosome Location	chr19:36156311-36156312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr19:36156288-36156323	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36156284-36156334	HepG2	liver:	n/a
2	chr19:36156284-36156334	HCPEpiC	choroid plexus:	n/a
3	chr19:36156284-36156334	SKMC	muscle:	n/a
4	chr19:36156284-36156334	Jurkat	blood:	n/a
5	chr19:36156284-36156334	GM12878	blood:	n/a
6	chr19:36156284-36156334	HRE	kidney:	n/a
7	chr19:36156284-36156334	IMR90	lung:	fetal
8	chr19:36156284-36156334	HUVEC	blood vessel:	n/a
9	chr19:36156284-36156334	T-47D	breast:	n/a
10	chr19:36156284-36156334	H1-hESC	embryonic stem cell:	embryo
11	chr19:36156284-36156334	U87	brain:	n/a
12	chr19:36156284-36156334	HAEpiC	amniotic membrane:	n/a
13	chr19:36156284-36156334	HMEC	breast:	n/a
14	chr19:36156284-36156334	AG04450	lung:	fetal
15	chr19:36156284-36156334	GM12892	blood:	n/a
16	chr19:36156284-36156334	AG09319	gingival:	n/a
17	chr19:36156284-36156334	Caco-2	colon:	n/a
18	chr19:36156284-36156334	HRPEpiC	eye:	n/a
19	chr19:36156284-36156334	K562	blood:	n/a
20	chr19:36156284-36156334	NHDF-neo	bronchial:	n/a
21	chr19:36156284-36156334	HCM	heart:	n/a
22	chr19:36156284-36156334	SK-N-SH	brain:	n/a
23	chr19:36156284-36156334	MCF10A-Er-Src	breast:	n/a
24	chr19:36156284-36156334	HEEpiC	esophagus:	n/a
25	chr19:36156284-36156334	SAEC	small airway:	n/a
26	chr19:36156284-36156334	HPAEpiC	pulmonary alveolar:	n/a
27	chr19:36156284-36156334	AoSMC	blood vessel:	n/a
28	chr19:36156284-36156334	HCF	heart:	n/a
29	chr19:36156284-36156334	BJ	skin:	n/a
30	chr19:36156284-36156334	HNPCEpiC	eye:	n/a
31	chr19:36156284-36156334	GM06990	blood:	n/a
32	chr19:36156284-36156334	LNCaP	prostate:	n/a
33	chr19:36156284-36156334	NHBE	bronchial:	n/a
34	chr19:36156284-36156334	NB4	blood:	n/a
35	chr19:36156284-36156334	GM19239	blood:	n/a
36	chr19:36156284-36156334	CMK	blood:	n/a
37	chr19:36156284-36156334	SK-N-MC	brain:	n/a
38	chr19:36156284-36156334	Hepatocyte	liver:	n/a
39	chr19:36156284-36156334	MCF-7	breast:	n/a
40	chr19:36156284-36156334	HRCEpiC	kidney:	n/a
41	chr19:36156284-36156334	A549	lung:	n/a
42	chr19:36156284-36156334	HL-60	blood:	n/a
43	chr19:36156284-36156334	SK-N-SH_RA	brain:	n/a
44	chr19:36156284-36156334	BE2_C	brain:	n/a
45	chr19:36156284-36156334	Hela-S3	cervix:	n/a
46	chr19:36156284-36156334	NH-A	brain:	n/a
47	chr19:36156284-36156334	PANC-1	pancreas:	n/a
48	chr19:36156284-36156334	GM12891	blood:	n/a
49	chr19:36156284-36156334	AG09309	skin:	n/a
50	chr19:36156284-36156334	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
UPK1A	TF binding region
UPK1A	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11882473	1.00[AMR][1000 genomes]
rs11882598	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11883199	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs35399814	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3761091	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3888030	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv543995	chr19:36139204-36203592	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36140400-36164000	Weak transcription	Right Atrium	heart
2	chr19:36140600-36157200	Strong transcription	Fetal Stomach	stomach
3	chr19:36141000-36157000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr19:36141400-36156800	Strong transcription	Spleen	Spleen
5	chr19:36141400-36157200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:36141800-36156800	Strong transcription	Fetal Thymus	thymus
7	chr19:36142200-36156800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:36142200-36156800	Strong transcription	Left Ventricle	heart
9	chr19:36142200-36157800	Weak transcription	Fetal Heart	heart
10	chr19:36142800-36157200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:36144400-36156800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr19:36144600-36156400	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:36144600-36156600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:36144600-36156800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:36144600-36156800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr19:36144600-36157200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:36144600-36157600	Strong transcription	Thymus	Thymus
18	chr19:36144800-36156600	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr19:36144800-36156600	Strong transcription	Gastric	stomach
20	chr19:36144800-36156800	Strong transcription	Brain Anterior Caudate	brain
21	chr19:36144800-36157000	Strong transcription	Fetal Muscle Leg	muscle
22	chr19:36145800-36157200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr19:36149600-36157000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:36149600-36158200	Weak transcription	Colon Smooth Muscle	Colon
25	chr19:36149600-36164000	Weak transcription	HMEC	breast
26	chr19:36149800-36156400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr19:36149800-36157200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:36149800-36158000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:36149800-36158200	Weak transcription	NH-A	brain
30	chr19:36149800-36158400	Weak transcription	Fetal Brain Male	brain
31	chr19:36149800-36158400	Weak transcription	Small Intestine	intestine
32	chr19:36149800-36161600	Weak transcription	Osteobl	bone
33	chr19:36149800-36163400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:36150000-36158000	Weak transcription	Fetal Brain Female	brain
35	chr19:36150000-36160800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:36150200-36156600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:36150200-36157600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:36151000-36156800	Weak transcription	Dnd41	blood
39	chr19:36151000-36157200	Weak transcription	HSMMtube	muscle
40	chr19:36151000-36158200	Weak transcription	Colonic Mucosa	Colon
41	chr19:36151000-36158400	Weak transcription	Fetal Intestine Large	intestine
42	chr19:36151200-36156400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:36151200-36157200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr19:36151200-36157400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:36151200-36158000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr19:36151200-36158200	Weak transcription	NHEK	skin
47	chr19:36151200-36158400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:36151200-36158600	Weak transcription	Brain Germinal Matrix	brain
49	chr19:36151200-36158600	Weak transcription	NHLF	lung
50	chr19:36151200-36159200	Weak transcription	Ovary	ovary

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