Variant report

Variant	rs34316070
Chromosome Location	chr19:19735988-19735989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19730445..19732435-chr19:19735094..19738509,3	K562	blood:
2	chr19:19728235..19731232-chr19:19732877..19736024,5	MCF-7	breast:
3	chr19:19699149..19708161-chr19:19735507..19742255,11	MCF-7	breast:
4	chr19:19728765..19732435-chr19:19733111..19738509,7	K562	blood:

Variant related genes	Relation type
ENSG00000267178	Chromatin interaction
ENSG00000105717	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	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12974028	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12977917	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12981270	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12982628	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12985142	0.87[EUR][1000 genomes]
rs1476459	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs33982830	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34096655	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34316527	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs34324119	0.89[EUR][1000 genomes]
rs34424437	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs35209041	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35437712	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35553578	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs35842591	0.93[EUR][1000 genomes]
rs56083851	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62134460	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62137783	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs62137816	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62137820	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62137822	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7247165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73004920	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs750216	0.92[AFR][1000 genomes];0.89[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	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19729800-19738600	Weak transcription	Right Atrium	heart
2	chr19:19729800-19744400	Weak transcription	HSMMtube	muscle
3	chr19:19730000-19737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:19730000-19737400	Weak transcription	HMEC	breast
5	chr19:19730000-19738000	Weak transcription	Adipose Nuclei	Adipose
6	chr19:19730000-19738000	Weak transcription	NHEK	skin
7	chr19:19730000-19738200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr19:19730200-19737000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:19730200-19737000	Weak transcription	GM12878-XiMat	blood
10	chr19:19730200-19737200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:19730200-19737400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr19:19730200-19738000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr19:19730200-19738200	Weak transcription	Brain Anterior Caudate	brain
14	chr19:19730200-19738200	Weak transcription	Brain Hippocampus Middle	brain
15	chr19:19730200-19740200	Weak transcription	Dnd41	blood
16	chr19:19730400-19736000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:19730400-19737000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:19730400-19737000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:19730400-19737800	Weak transcription	Primary B cells from cord blood	blood
20	chr19:19730400-19737800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr19:19730400-19738200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr19:19730600-19737400	Weak transcription	Fetal Muscle Leg	muscle
23	chr19:19730600-19737600	Weak transcription	Colonic Mucosa	Colon
24	chr19:19730600-19737800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr19:19730600-19738400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:19731000-19737200	Weak transcription	Stomach Mucosa	stomach
27	chr19:19731800-19737200	Strong transcription	Fetal Stomach	stomach
28	chr19:19731800-19738200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr19:19732000-19736000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:19733200-19736000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr19:19733200-19736400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:19733200-19736600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:19733200-19736600	Strong transcription	Thymus	Thymus
34	chr19:19733200-19738000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:19733400-19736000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:19733400-19736200	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr19:19733400-19736200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:19733400-19736400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr19:19733400-19736600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr19:19733400-19736800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:19733400-19737800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:19733600-19737200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:19734400-19736200	Genic enhancers	Fetal Brain Female	brain
44	chr19:19734400-19737000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:19734400-19737200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr19:19734600-19736200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr19:19734600-19736200	Strong transcription	Fetal Thymus	thymus
48	chr19:19734800-19736200	Enhancers	Fetal Brain Male	brain
49	chr19:19735000-19736000	Strong transcription	Brain Germinal Matrix	brain
50	chr19:19735000-19737000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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