Variant report

Variant	rs35437712
Chromosome Location	chr19:19728648-19728649
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19728090..19730297-chr19:19774010..19775598,2	K562	blood:
2	chr19:19727841..19730107-chr19:19763060..19764845,2	MCF-7	breast:
3	chr19:19651405..19654732-chr19:19727842..19732175,4	MCF-7	breast:
4	chr19:19728345..19731839-chr19:19736250..19740547,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064547	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000105726	Chromatin interaction

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

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

rs_ID	r²[population]
rs12611058	1.00[ASW][hapmap];0.95[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12974028	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12977917	1.00[ASW][hapmap];0.91[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12981270	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12982628	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12985142	0.84[EUR][1000 genomes]
rs1476459	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs33982830	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34096655	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34316070	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34316527	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34324119	0.85[EUR][1000 genomes]
rs34424437	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35209041	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35553578	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35842591	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56083851	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62134460	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62137783	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62137816	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62137820	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62137822	0.99[EUR][1000 genomes]
rs7247165	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73004920	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs750216	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[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	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19714000-19728800	Weak transcription	Brain Anterior Caudate	brain
2	chr19:19719600-19729000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:19719800-19728800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:19724600-19729000	Weak transcription	Osteobl	bone
5	chr19:19724800-19728800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:19724800-19728800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:19724800-19728800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:19725000-19728800	Weak transcription	Fetal Kidney	kidney
9	chr19:19725000-19728800	Weak transcription	HSMM	muscle
10	chr19:19725000-19728800	Weak transcription	NHEK	skin
11	chr19:19725000-19729000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:19725000-19729000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:19725200-19728800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr19:19725600-19728800	Weak transcription	A549	lung
15	chr19:19725800-19728800	Weak transcription	HMEC	breast
16	chr19:19726400-19729000	Weak transcription	HSMMtube	muscle
17	chr19:19726800-19728800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:19726800-19729000	Weak transcription	Lung	lung
19	chr19:19727000-19728800	Weak transcription	Fetal Lung	lung
20	chr19:19727000-19728800	Weak transcription	Spleen	Spleen
21	chr19:19727000-19729000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr19:19727000-19729000	Weak transcription	Small Intestine	intestine
23	chr19:19727000-19729200	Weak transcription	Psoas Muscle	Psoas
24	chr19:19727000-19730200	Weak transcription	HepG2	liver
25	chr19:19727600-19728800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr19:19727800-19729200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr19:19727800-19729200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr19:19728000-19728800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr19:19728000-19728800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr19:19728000-19729000	Weak transcription	Placenta	Placenta
31	chr19:19728000-19729000	Enhancers	Stomach Mucosa	stomach
32	chr19:19728000-19729000	Active TSS	GM12878-XiMat	blood
33	chr19:19728200-19729000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:19728200-19729200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr19:19728200-19729600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:19728200-19730600	Enhancers	Fetal Brain Male	brain
37	chr19:19728400-19728800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr19:19728400-19728800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr19:19728400-19728800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:19728400-19728800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr19:19728400-19729000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:19728400-19729200	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr19:19728400-19729800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr19:19728400-19729800	Active TSS	NHDF-Ad	bronchial
45	chr19:19728400-19730000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr19:19728400-19730000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:19728400-19730200	Flanking Active TSS	Dnd41	blood
48	chr19:19728600-19728800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr19:19728600-19728800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:19728600-19728800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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