Variant report

Variant	rs9304602
Chromosome Location	chr19:42804471-42804472
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42803872-42804587	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr19:42803834-42804763	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr19:42804439-42804555	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:42803737-42804639	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr19:42804367-42804511	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42795173..42796087-chr19:42804031..42804541,2	K562	blood:
2	chr19:42754290..42756701-chr19:42804402..42806386,2	K562	blood:
3	chr19:42804082..42810862-chr19:42813351..42818872,10	K562	blood:
4	chr19:42756858..42762075-chr19:42803237..42807691,9	K562	blood:
5	chr19:42786948..42794333-chr19:42803465..42809501,23	K562	blood:
6	chr19:42787763..42791073-chr19:42804241..42808628,6	MCF-7	breast:
7	chr19:42745110..42750037-chr19:42804255..42809210,7	MCF-7	breast:
8	chr19:42783298..42787362-chr19:42802681..42808039,8	MCF-7	breast:

No data

Variant related genes	Relation type
PRR19	TF binding region
ENSG00000204957	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000167619	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000268643	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10401224	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs10402438	1.00[EUR][1000 genomes]
rs10404650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406800	1.00[AMR][1000 genomes]
rs10406972	1.00[EUR][1000 genomes]
rs10407085	1.00[EUR][1000 genomes]
rs10407155	1.00[EUR][1000 genomes]
rs10407842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10408258	1.00[EUR][1000 genomes]
rs10409428	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs10409433	0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409939	1.00[EUR][1000 genomes]
rs10410129	0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10410174	1.00[AMR][1000 genomes]
rs10410653	0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411498	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411908	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10413484	0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415759	1.00[AMR][1000 genomes]
rs10415999	1.00[EUR][1000 genomes]
rs10416535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418102	1.00[AMR][1000 genomes]
rs10418312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421331	1.00[AMR][1000 genomes]
rs10421409	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421510	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs10421857	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421902	1.00[AMR][1000 genomes]
rs10422301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422867	1.00[EUR][1000 genomes]
rs10423812	1.00[EUR][1000 genomes]
rs10423959	1.00[EUR][1000 genomes]
rs10423978	1.00[EUR][1000 genomes]
rs10424402	1.00[EUR][1000 genomes]
rs10425003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425320	1.00[EUR][1000 genomes]
rs10425783	1.00[EUR][1000 genomes]
rs10426267	1.00[EUR][1000 genomes]
rs10426284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878207	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878297	1.00[EUR][1000 genomes]
rs11879073	1.00[EUR][1000 genomes]
rs11879538	1.00[EUR][1000 genomes]
rs11880214	1.00[EUR][1000 genomes]
rs11880356	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882107	1.00[EUR][1000 genomes]
rs11882801	1.00[EUR][1000 genomes]
rs12165130	1.00[EUR][1000 genomes]
rs13343322	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13346837	1.00[EUR][1000 genomes]
rs2229614	0.80[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28463673	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28469564	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28474957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28483598	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28496975	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28657829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28663042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28675019	1.00[EUR][1000 genomes]
rs28675764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28686771	1.00[AMR][1000 genomes]
rs28699037	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28711448	1.00[EUR][1000 genomes]
rs28715574	1.00[EUR][1000 genomes]
rs33919763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35707383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36089262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41407146	1.00[AMR][1000 genomes]
rs59870753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60950516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258727	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73552879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554520	1.00[EUR][1000 genomes]
rs73554531	1.00[EUR][1000 genomes]
rs73558432	1.00[AMR][1000 genomes]
rs8099885	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109258	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
5	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
6	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
7	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
8	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42790600-42804600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr19:42790600-42804800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:42790600-42805000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:42790600-42805400	Weak transcription	Stomach Mucosa	stomach
5	chr19:42790600-42806000	Weak transcription	Psoas Muscle	Psoas
6	chr19:42791200-42804600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:42791200-42805800	Weak transcription	Fetal Heart	heart
8	chr19:42791200-42806000	Weak transcription	Right Atrium	heart
9	chr19:42791400-42804600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:42791600-42804600	Strong transcription	Fetal Stomach	stomach
11	chr19:42792800-42806000	Weak transcription	HSMM	muscle
12	chr19:42794400-42805600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr19:42794400-42805800	Weak transcription	NHDF-Ad	bronchial
14	chr19:42795600-42804600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr19:42796000-42805600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:42796600-42805600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr19:42796600-42805600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:42798400-42805400	Weak transcription	HepG2	liver
19	chr19:42798600-42806200	Weak transcription	Small Intestine	intestine
20	chr19:42799000-42805200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:42799000-42805400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:42799000-42805400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr19:42799000-42805400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:42799000-42805800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr19:42799000-42806000	Weak transcription	Aorta	Aorta
26	chr19:42799000-42806000	Weak transcription	Left Ventricle	heart
27	chr19:42799200-42805400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr19:42799200-42805600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr19:42799200-42805600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:42799400-42805600	Weak transcription	Primary T cells from cord blood	blood
31	chr19:42799400-42806000	Weak transcription	Ovary	ovary
32	chr19:42799600-42805400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:42799600-42805800	Weak transcription	Colonic Mucosa	Colon
34	chr19:42799600-42805800	Weak transcription	Right Ventricle	heart
35	chr19:42799600-42806000	Weak transcription	HSMMtube	muscle
36	chr19:42800000-42805600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr19:42800000-42805600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr19:42800200-42804600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr19:42800200-42805800	Weak transcription	Primary B cells from cord blood	blood
40	chr19:42800200-42806000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:42800400-42804600	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr19:42800400-42804600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:42800400-42806000	Weak transcription	Colon Smooth Muscle	Colon
44	chr19:42800600-42804600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr19:42800600-42805400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:42800600-42805400	Weak transcription	Adipose Nuclei	Adipose
47	chr19:42800600-42805600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:42800600-42805600	Weak transcription	Brain Angular Gyrus	brain
49	chr19:42800600-42805600	Weak transcription	Brain Hippocampus Middle	brain
50	chr19:42800600-42805600	Weak transcription	Brain Inferior Temporal Lobe	brain

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