Variant report

Variant	rs12971806
Chromosome Location	chr19:40708022-40708023
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40707464..40709416-chr19:40730285..40732498,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105219	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10402740	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1129156	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12975651	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs189281	0.87[ASN][1000 genomes]
rs2304184	0.81[AMR][1000 genomes]
rs2356229	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs339522	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs339523	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs339525	0.90[ASN][1000 genomes]
rs339526	0.87[ASN][1000 genomes]
rs4239504	0.80[AMR][1000 genomes]
rs4530264	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4802070	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56694147	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247201	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7258548	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7260249	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8106744	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9749056	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv911697	chr19:40599603-40711333	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv911698	chr19:40689580-40725304	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv911700	chr19:40695598-40725304	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv911701	chr19:40695598-40728417	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv911702	chr19:40697061-40731371	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40698000-40711400	Weak transcription	Fetal Kidney	kidney
2	chr19:40698400-40711200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:40698400-40714600	Weak transcription	Small Intestine	intestine
4	chr19:40698400-40715400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:40698600-40721200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:40698800-40708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr19:40698800-40708600	Weak transcription	Primary B cells from cord blood	blood
8	chr19:40698800-40708600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:40698800-40708600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:40698800-40711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:40698800-40711000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:40698800-40711000	Weak transcription	Fetal Intestine Large	intestine
13	chr19:40698800-40715600	Weak transcription	Liver	Liver
14	chr19:40698800-40719600	Weak transcription	HSMM	muscle
15	chr19:40698800-40720200	Weak transcription	NHEK	skin
16	chr19:40698800-40721400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:40698800-40722000	Weak transcription	Fetal Thymus	thymus
18	chr19:40699000-40708800	Weak transcription	Gastric	stomach
19	chr19:40699000-40708800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr19:40699000-40709000	Weak transcription	Primary T cells from cord blood	blood
21	chr19:40699000-40709200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr19:40699000-40710400	Weak transcription	NHLF	lung
23	chr19:40699000-40711000	Weak transcription	HSMMtube	muscle
24	chr19:40699000-40716600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:40699000-40716600	Weak transcription	A549	lung
26	chr19:40699000-40720400	Weak transcription	Psoas Muscle	Psoas
27	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr19:40699000-40722200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr19:40699000-40722400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:40699200-40708200	Weak transcription	Colon Smooth Muscle	Colon
31	chr19:40699200-40708600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr19:40699200-40708600	Weak transcription	Fetal Lung	lung
33	chr19:40699200-40708600	Weak transcription	Ovary	ovary
34	chr19:40699200-40708800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr19:40699200-40708800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:40699200-40708800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:40699200-40709200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr19:40699200-40709400	Weak transcription	Esophagus	oesophagus
39	chr19:40699200-40710400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:40699200-40710400	Weak transcription	Colonic Mucosa	Colon
41	chr19:40699200-40710600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:40699200-40716800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr19:40699200-40716800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr19:40699200-40720200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr19:40699200-40720400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr19:40699200-40721200	Weak transcription	NH-A	brain
47	chr19:40699200-40721400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr19:40699400-40708800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:40699400-40711200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr19:40699400-40716400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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