Variant report

Variant	rs58142685
Chromosome Location	chr19:36238519-36238520
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36207379..36214815-chr19:36234227..36241330,25	MCF-7	breast:
2	chr19:36237682..36239540-chr19:36335176..36337549,2	MCF-7	breast:
3	chr19:35759096..35761188-chr19:36236088..36238876,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105698	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000161270	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11546662	0.88[AMR][1000 genomes]
rs11546665	0.88[AMR][1000 genomes]
rs16970649	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17776834	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2227278	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2234360	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2234375	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34562867	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817622	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3893069	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4992668	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56849855	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58255615	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58952294	0.81[AFR][1000 genomes]
rs61254015	0.81[AFR][1000 genomes]
rs61351824	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73590543	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73590544	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73590559	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73590561	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73590564	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73590568	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73590576	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73590585	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73590591	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73590598	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73592416	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73592448	0.88[AMR][1000 genomes]
rs73602823	0.81[AFR][1000 genomes]
rs73602827	0.81[AFR][1000 genomes]
rs73602833	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv515536	chr19:36219525-36240960	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36237000-36239000	Weak transcription	Ovary	ovary
2	chr19:36237000-36239400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:36237200-36238800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:36237200-36239000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:36237200-36239400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:36237200-36239400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:36237200-36239400	Weak transcription	Aorta	Aorta
8	chr19:36237400-36238800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:36237400-36238800	Weak transcription	Fetal Kidney	kidney
10	chr19:36237400-36239000	Enhancers	Brain Substantia Nigra	brain
11	chr19:36237400-36239400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr19:36237600-36238600	Weak transcription	Fetal Intestine Large	intestine
13	chr19:36237600-36238600	Weak transcription	Fetal Thymus	thymus
14	chr19:36237600-36238800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr19:36237600-36238800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:36237600-36238800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:36237600-36238800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:36237600-36238800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:36237600-36238800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:36237600-36238800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:36237600-36238800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr19:36237600-36238800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr19:36237600-36238800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr19:36237600-36238800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr19:36237600-36238800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr19:36237600-36238800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:36237600-36238800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:36237600-36238800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:36237600-36238800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr19:36237600-36238800	Weak transcription	Brain Angular Gyrus	brain
31	chr19:36237600-36238800	Weak transcription	Brain Anterior Caudate	brain
32	chr19:36237600-36238800	Weak transcription	Brain Hippocampus Middle	brain
33	chr19:36237600-36238800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:36237600-36238800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:36237600-36238800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr19:36237600-36238800	Weak transcription	Fetal Heart	heart
37	chr19:36237600-36238800	Weak transcription	Fetal Lung	lung
38	chr19:36237600-36238800	Weak transcription	Fetal Stomach	stomach
39	chr19:36237600-36238800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr19:36237600-36238800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr19:36237600-36238800	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:36237600-36238800	Weak transcription	Stomach Mucosa	stomach
43	chr19:36237600-36238800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr19:36237600-36238800	Weak transcription	Thymus	Thymus
45	chr19:36237600-36238800	Weak transcription	NHLF	lung
46	chr19:36237600-36238800	Weak transcription	Osteobl	bone
47	chr19:36237600-36239000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr19:36237600-36239000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr19:36237600-36239000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:36237600-36239000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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