Variant report

Variant	rs34443712
Chromosome Location	chr15:77359514-77359515
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77359065..77361270-chr15:77362713..77364449,3	K562	blood:
2	chr15:77357220..77360797-chr15:77361367..77364060,6	MCF-7	breast:
3	chr15:77326257..77328074-chr15:77358170..77359996,2	K562	blood:

Variant related genes	Relation type
ENSG00000140391	Chromatin interaction
ENSG00000140368	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11072641	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11630497	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11636613	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11636648	0.92[EUR][1000 genomes]
rs11737	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12372961	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12901188	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12912792	0.83[ASN][1000 genomes]
rs16968665	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2404233	0.81[ASN][1000 genomes]
rs2404234	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4886509	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886847	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55645420	0.83[ASN][1000 genomes]
rs7169831	0.97[EUR][1000 genomes]
rs8032	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs938501	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833058	chr15:77235895-77393640	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv517068	chr15:77254544-77381222	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv904414	chr15:77304310-77400388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
10	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs34443712	RP11-797A18.4	cis	lung	GTEx
rs34443712	RP11-797A18.4	cis	Esophagus Muscularis	GTEx
rs34443712	RP11-797A18.4	cis	Muscle Skeletal	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77321200-77362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:77339000-77362000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:77345200-77360200	Weak transcription	Spleen	Spleen
4	chr15:77345200-77362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:77345400-77361400	Weak transcription	Placenta	Placenta
6	chr15:77346600-77359800	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr15:77346600-77361200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:77347200-77361600	Weak transcription	Dnd41	blood
9	chr15:77349200-77362000	Weak transcription	Lung	lung
10	chr15:77349400-77361000	Weak transcription	Fetal Thymus	thymus
11	chr15:77349600-77362000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:77351000-77361800	Weak transcription	Pancreas	Pancrea
13	chr15:77352400-77362000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:77352600-77359800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:77352600-77360200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:77352600-77362000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:77353000-77361800	Weak transcription	Thymus	Thymus
18	chr15:77353200-77361800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:77353400-77361600	Weak transcription	Primary T cells from cord blood	blood
20	chr15:77353800-77360200	Enhancers	Stomach Mucosa	stomach
21	chr15:77353800-77362000	Weak transcription	Left Ventricle	heart
22	chr15:77354000-77361800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:77354000-77361800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:77354200-77362000	Weak transcription	Aorta	Aorta
25	chr15:77354400-77361000	Weak transcription	Fetal Muscle Leg	muscle
26	chr15:77354400-77361800	Weak transcription	Right Atrium	heart
27	chr15:77354400-77362000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:77354600-77359600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:77354600-77359800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr15:77354600-77360200	Weak transcription	Fetal Brain Female	brain
31	chr15:77354800-77360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:77355000-77359600	Weak transcription	Colon Smooth Muscle	Colon
33	chr15:77355200-77360000	Weak transcription	Brain Germinal Matrix	brain
34	chr15:77355200-77361200	Weak transcription	Fetal Stomach	stomach
35	chr15:77355800-77362000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr15:77356200-77361000	Enhancers	Fetal Intestine Large	intestine
37	chr15:77356600-77359600	Enhancers	Primary B cells from cord blood	blood
38	chr15:77357200-77359600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr15:77357200-77361800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr15:77357200-77361800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr15:77357200-77362000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:77357400-77359600	Weak transcription	Brain Anterior Caudate	brain
43	chr15:77357400-77359800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:77357400-77359800	Weak transcription	HSMMtube	muscle
45	chr15:77357400-77361000	Weak transcription	Brain Substantia Nigra	brain
46	chr15:77357400-77361800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:77357400-77362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr15:77357600-77359600	Weak transcription	NHDF-Ad	bronchial
49	chr15:77357600-77359800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:77357600-77360200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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