Variant report

Variant	rs7260152
Chromosome Location	chr19:52160305-52160306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51975913..51977254-chr19:52159906..52161263,12	MCF-7	breast:
2	chr19:52110839..52111869-chr19:52159924..52160844,8	MCF-7	breast:
3	chr19:51975890..51976812-chr19:52159933..52160756,4	K562	blood:
4	chr19:51874861..51877749-chr19:52158879..52160406,2	K562	blood:
5	chr19:51925281..51925822-chr19:52159922..52160574,2	MCF-7	breast:
6	chr19:52110880..52111497-chr19:52159833..52160812,2	MCF-7	breast:
7	chr19:52014761..52015333-chr19:52159948..52160615,2	MCF-7	breast:
8	chr19:52140352..52141294-chr19:52160036..52160673,2	K562	blood:
9	chr19:52159931..52161750-chr19:52173076..52176072,2	K562	blood:
10	chr19:51975931..51976838-chr19:52160089..52160663,2	MCF-7	breast:
11	chr19:51924885..51925819-chr19:52159862..52160853,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105374	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10405591	0.92[ASN][1000 genomes]
rs10413597	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs12459503	0.90[ASN][1000 genomes]
rs12978299	0.94[ASN][1000 genomes]
rs7248988	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
2	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
3	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
4	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
5	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	531 gene(s)	inside rSNPs	diseases
6	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
7	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
8	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
9	nsv2532	chr19:52109105-52186946	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv181	chr19:52113123-52162533	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv432071	chr19:52127053-52182363	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv1843680	chr19:52131510-52211749	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
13	nsv1065199	chr19:52142340-52165439	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv2757698	chr19:52142631-52165127	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1066046	chr19:52147399-52271247	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
16	nsv544054	chr19:52147399-52271247	Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7260152	TSEN34	cis	cerebellum	SCAN
rs7260152	ZNF671	cis	cerebellum	SCAN
rs7260152	TTYH1	cis	parietal	SCAN
rs7260152	ZNF702P	cis	parietal	SCAN
rs7260152	ZIK1	cis	parietal	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52159400-52160400	Enhancers	Primary B cells from cord blood	blood
2	chr19:52160000-52160400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:52160000-52160400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr19:52160000-52160400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr19:52160000-52160400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr19:52160000-52160400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
7	chr19:52160000-52160400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr19:52160000-52160400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:52160000-52160400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:52160000-52160400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:52160000-52160400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr19:52160000-52160400	Active TSS	Adipose Nuclei	Adipose
13	chr19:52160000-52160400	Active TSS	Brain Anterior Caudate	brain
14	chr19:52160000-52160400	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr19:52160000-52160400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:52160000-52160400	Flanking Active TSS	Brain Substantia Nigra	brain
17	chr19:52160000-52160400	Active TSS	Colon Smooth Muscle	Colon
18	chr19:52160000-52160400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr19:52160000-52160400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr19:52160000-52160400	Active TSS	Fetal Lung	lung
21	chr19:52160000-52160400	Active TSS	Rectal Smooth Muscle	rectum
22	chr19:52160000-52160400	Active TSS	Stomach Smooth Muscle	stomach
23	chr19:52160000-52160400	Flanking Active TSS	GM12878-XiMat	blood
24	chr19:52160000-52160400	Flanking Active TSS	NHDF-Ad	bronchial
25	chr19:52160000-52160600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr19:52160000-52160800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr19:52160000-52160800	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:52160000-52160800	Enhancers	Ovary	ovary
29	chr19:52160000-52160800	Bivalent Enhancer	Dnd41	blood
30	chr19:52160000-52160800	Enhancers	HMEC	breast
31	chr19:52160000-52160800	Enhancers	K562	blood
32	chr19:52160000-52161000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:52160000-52161000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:52160000-52162200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr19:52160000-52162200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr19:52160000-52162600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr19:52160200-52160400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:52160200-52160400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr19:52160200-52160400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr19:52160200-52160400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:52160200-52160400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr19:52160200-52160400	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr19:52160200-52160400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
44	chr19:52160200-52160400	Flanking Active TSS	Left Ventricle	heart
45	chr19:52160200-52160400	Flanking Active TSS	Right Atrium	heart
46	chr19:52160200-52160400	Enhancers	NH-A	brain
47	chr19:52160200-52160400	Flanking Active TSS	Osteobl	bone
48	chr19:52160200-52160600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr19:52160200-52160800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:52160200-52160800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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