Variant report

Variant	rs2657927
Chromosome Location	chr19:52775125-52775126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:52774238-52775166	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:52772414-52775242	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:52764752..52766794-chr19:52774661..52777312,2	K562	blood:
2	chr19:52772026..52776261-chr19:52781637..52786393,5	K562	blood:
3	chr19:52772381..52778282-chr19:52778346..52783668,9	MCF-7	breast:
4	chr19:52692994..52696358-chr19:52773094..52775949,3	MCF-7	breast:
5	chr19:52774375..52777116-chr19:52786827..52789950,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF766	TF binding region
ENSG00000208002	Chromatin interaction
ENSG00000196214	Chromatin interaction
ENSG00000105568	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10426950	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2560875	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2560904	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2560905	0.94[EUR][1000 genomes]
rs2657928	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2657930	0.81[AFR][1000 genomes]
rs62110405	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6509630	0.83[AFR][1000 genomes]
rs8112349	0.84[AFR][1000 genomes]
rs9304727	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52774000-52775200	Enhancers	Left Ventricle	heart
2	chr19:52774000-52775600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:52774000-52776000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:52774000-52776000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:52774000-52776000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:52774000-52776000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:52774000-52776600	Weak transcription	Esophagus	oesophagus
8	chr19:52774000-52776800	Weak transcription	Psoas Muscle	Psoas
9	chr19:52774000-52780000	Weak transcription	Aorta	Aorta
10	chr19:52774000-52780200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr19:52774000-52786600	Weak transcription	Right Ventricle	heart
12	chr19:52774000-52787200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:52774200-52775600	Weak transcription	NH-A	brain
14	chr19:52774200-52776000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:52774200-52776000	Weak transcription	NHEK	skin
16	chr19:52774200-52777400	Weak transcription	HSMMtube	muscle
17	chr19:52774200-52786600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr19:52774200-52797400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:52774200-52799600	Weak transcription	Hela-S3	cervix
20	chr19:52774400-52775200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr19:52774400-52775400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:52774400-52775600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr19:52774400-52775600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr19:52774400-52775600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:52774400-52775600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr19:52774400-52775800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr19:52774400-52775800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:52774400-52776000	Strong transcription	HSMM	muscle
29	chr19:52774400-52777000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:52774400-52777200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:52774400-52777200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr19:52774400-52777600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:52774400-52777800	ZNF genes & repeats	A549	lung
34	chr19:52774400-52778400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr19:52774400-52778400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
36	chr19:52774400-52779200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr19:52774400-52781000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:52774400-52782000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:52774400-52786600	Weak transcription	Osteobl	bone
40	chr19:52774400-52787000	Weak transcription	HUVEC	blood vessel
41	chr19:52774400-52787400	Weak transcription	NHDF-Ad	bronchial
42	chr19:52774600-52775200	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr19:52774600-52775200	Weak transcription	Fetal Lung	lung
44	chr19:52774600-52775200	Genic enhancers	Spleen	Spleen
45	chr19:52774600-52775400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr19:52774600-52775400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr19:52774600-52775400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr19:52774600-52775600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:52774600-52775600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr19:52774600-52775600	Weak transcription	Fetal Intestine Large	intestine

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