Variant report

Variant	rs61379500
Chromosome Location	chr19:38834913-38834914
allele	G/T
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	ZNF263	chr19:38834905-38835306	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38833439..38835200-chr19:38870753..38873004,2	MCF-7	breast:
2	chr19:38803963..38805579-chr19:38834586..38836775,2	K562	blood:
3	chr19:38753926..38756538-chr19:38833889..38836607,2	MCF-7	breast:
4	chr19:38827274..38829284-chr19:38833779..38835815,2	MCF-7	breast:

Variant related genes	Relation type
CATSPERG	TF binding region
ENSG00000099338	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000099341	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1060455	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11083453	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12460181	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12460264	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12460599	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12461248	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12461700	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12462230	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12463175	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2072350	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2074979	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2074980	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2286547	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286550	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286551	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2302226	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35848839	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3745955	0.95[ASN][1000 genomes]
rs3745956	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3745960	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3745961	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3745962	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60577771	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60759642	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60915799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38828000-38838400	Weak transcription	HSMMtube	muscle
2	chr19:38828200-38836400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:38828200-38836600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:38828200-38836800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:38828200-38837000	Weak transcription	Colon Smooth Muscle	Colon
6	chr19:38828200-38837400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:38828200-38838000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr19:38828200-38838200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:38828200-38838400	Weak transcription	Colonic Mucosa	Colon
10	chr19:38828200-38838400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:38828200-38839000	Weak transcription	Brain Anterior Caudate	brain
12	chr19:38828200-38840400	Weak transcription	Left Ventricle	heart
13	chr19:38828200-38841400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:38828200-38842000	Weak transcription	Brain Angular Gyrus	brain
15	chr19:38828200-38842600	Weak transcription	Esophagus	oesophagus
16	chr19:38828200-38844800	Weak transcription	Brain Substantia Nigra	brain
17	chr19:38828200-38852000	Weak transcription	Right Atrium	heart
18	chr19:38828400-38835000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:38828400-38835400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr19:38828400-38836200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:38828400-38836800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:38828400-38837200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr19:38828400-38837800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr19:38828400-38838200	Weak transcription	Adipose Nuclei	Adipose
25	chr19:38828400-38839200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr19:38828400-38839600	Weak transcription	Primary T cells from cord blood	blood
27	chr19:38828400-38839800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr19:38828400-38839800	Weak transcription	Right Ventricle	heart
29	chr19:38828400-38840000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr19:38828600-38838800	Weak transcription	Primary B cells from cord blood	blood
31	chr19:38828600-38839000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr19:38828600-38839600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:38828800-38837000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:38829000-38838600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:38829400-38835000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:38829400-38836600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr19:38829400-38839800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr19:38829600-38839400	Weak transcription	Thymus	Thymus
39	chr19:38830200-38844800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:38830400-38837800	Weak transcription	Fetal Intestine Large	intestine
41	chr19:38831400-38835200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr19:38831600-38838200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr19:38832200-38836600	Strong transcription	Fetal Stomach	stomach
44	chr19:38832200-38838200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr19:38832200-38840400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr19:38833200-38835200	Strong transcription	Lung	lung
47	chr19:38833200-38837800	Strong transcription	Fetal Intestine Small	intestine
48	chr19:38833200-38838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr19:38833400-38835000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:38833400-38835600	Strong transcription	Brain Germinal Matrix	brain

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