Variant report

Variant	rs57511882
Chromosome Location	chr19:51600107-51600108
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:51432762..51433289-chr19:51599890..51600413,2	MCF-7	breast:
2	chr19:51597716..51600243-chr19:51605758..51608213,4	MCF-7	breast:
3	chr19:51523695..51525833-chr19:51599486..51602295,2	MCF-7	breast:
4	chr19:51592240..51594629-chr19:51598115..51600500,2	MCF-7	breast:
5	chr19:51523995..51524912-chr19:51599448..51600846,4	K562	blood:
6	chr19:51522850..51527724-chr19:51594893..51601573,10	MCF-7	breast:
7	chr19:51592842..51595382-chr19:51599884..51601397,2	K562	blood:
8	chr19:51599871..51602730-chr19:51610158..51611897,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167757	Chromatin interaction
ENSG00000129451	Chromatin interaction
ENSG00000142544	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1007755	1.00[EUR][1000 genomes]
rs10403860	1.00[EUR][1000 genomes]
rs10405869	1.00[EUR][1000 genomes]
rs10407410	1.00[EUR][1000 genomes]
rs10416208	1.00[EUR][1000 genomes]
rs10416327	1.00[EUR][1000 genomes]
rs10418167	1.00[EUR][1000 genomes]
rs10419749	1.00[EUR][1000 genomes]
rs10421703	1.00[EUR][1000 genomes]
rs10422661	1.00[EUR][1000 genomes]
rs10423943	1.00[EUR][1000 genomes]
rs11882250	1.00[EUR][1000 genomes]
rs2075692	1.00[EUR][1000 genomes]
rs28693721	1.00[EUR][1000 genomes]
rs56662071	1.00[EUR][1000 genomes]
rs57033225	1.00[EUR][1000 genomes]
rs58664594	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58768535	1.00[EUR][1000 genomes]
rs59520043	1.00[EUR][1000 genomes]
rs59941188	1.00[EUR][1000 genomes]
rs60865290	1.00[EUR][1000 genomes]
rs61437908	1.00[EUR][1000 genomes]
rs7245714	1.00[EUR][1000 genomes]
rs7246875	1.00[EUR][1000 genomes]
rs7253323	1.00[EUR][1000 genomes]
rs7253328	1.00[EUR][1000 genomes]
rs7255167	1.00[EUR][1000 genomes]
rs7255602	1.00[EUR][1000 genomes]
rs73597589	1.00[EUR][1000 genomes]
rs73597600	1.00[EUR][1000 genomes]
rs73612266	1.00[EUR][1000 genomes]
rs73612698	1.00[EUR][1000 genomes]
rs73612702	1.00[EUR][1000 genomes]
rs73932868	1.00[EUR][1000 genomes]
rs73936112	1.00[EUR][1000 genomes]
rs8105500	1.00[EUR][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	esv34104	chr19:51566170-51641675	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv912292	chr19:51587643-51628529	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912293	chr19:51596136-51614461	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51583000-51604200	Weak transcription	Left Ventricle	heart
2	chr19:51587200-51604400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:51590000-51600200	Weak transcription	Spleen	Spleen
4	chr19:51590200-51601200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:51592600-51605400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr19:51593400-51610200	Weak transcription	HSMMtube	muscle
7	chr19:51594200-51605600	Weak transcription	HSMM	muscle
8	chr19:51594600-51606000	Weak transcription	K562	blood
9	chr19:51595800-51600600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:51595800-51601000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:51595800-51601000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr19:51595800-51601200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:51595800-51602200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:51595800-51605800	Weak transcription	Colonic Mucosa	Colon
15	chr19:51596000-51601200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr19:51596000-51601200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr19:51596200-51604800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:51596400-51600400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:51596600-51601000	Weak transcription	Gastric	stomach
20	chr19:51596800-51601000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:51596800-51603200	Weak transcription	Brain Angular Gyrus	brain
22	chr19:51597000-51600400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:51597000-51602200	Weak transcription	Fetal Brain Male	brain
24	chr19:51597000-51603200	Weak transcription	Fetal Thymus	thymus
25	chr19:51597000-51605400	Weak transcription	Fetal Lung	lung
26	chr19:51597200-51600200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:51597200-51600400	Weak transcription	Dnd41	blood
28	chr19:51597200-51601200	Weak transcription	Brain Anterior Caudate	brain
29	chr19:51597200-51601200	Weak transcription	Placenta	Placenta
30	chr19:51597200-51605600	Weak transcription	Brain Substantia Nigra	brain
31	chr19:51597200-51610200	Weak transcription	NHDF-Ad	bronchial
32	chr19:51597400-51600400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:51597400-51601000	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:51597400-51601200	Weak transcription	Esophagus	oesophagus
35	chr19:51597400-51601600	Weak transcription	Thymus	Thymus
36	chr19:51597400-51602400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr19:51597400-51602600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr19:51597600-51600800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:51597600-51601200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:51597600-51602600	Weak transcription	Hela-S3	cervix
41	chr19:51597600-51604400	Weak transcription	GM12878-XiMat	blood
42	chr19:51597800-51602600	Weak transcription	Primary B cells from cord blood	blood
43	chr19:51597800-51603200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:51597800-51604600	Weak transcription	Osteobl	bone
45	chr19:51597800-51605600	Weak transcription	HepG2	liver
46	chr19:51598000-51600200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr19:51598000-51605800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr19:51598000-51605800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:51598000-51610800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr19:51598200-51601200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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