Variant report

Variant	rs321917
Chromosome Location	chr19:52840510-52840511
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52771880..52774244-chr19:52838831..52841718,3	MCF-7	breast:
2	chr19:52800699..52803892-chr19:52837325..52840976,3	MCF-7	breast:
3	chr19:52641710..52644473-chr19:52838292..52841252,2	MCF-7	breast:
4	chr19:52828291..52831274-chr19:52840252..52843029,2	K562	blood:
5	chr19:52835793..52838110-chr19:52840085..52841943,2	K562	blood:
6	chr19:52839189..52842101-chr19:52900021..52902093,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196214	Chromatin interaction
ENSG00000167555	Chromatin interaction
ENSG00000269102	Chromatin interaction
ENSG00000198464	Chromatin interaction
ENSG00000204611	Chromatin interaction
ENSG00000269834	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2560891	0.81[AFR][1000 genomes]
rs321929	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv458742	chr19:52808986-52866171	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
9	nsv580008	chr19:52808986-52866171	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
10	esv3401193	chr19:52818960-52909749	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv912300	chr19:52832830-52928039	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv912301	chr19:52835210-52914233	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52802400-52841800	ZNF genes & repeats	Liver	Liver
2	chr19:52838600-52840600	ZNF genes & repeats	Pancreas	Pancrea
3	chr19:52838600-52840600	ZNF genes & repeats	Spleen	Spleen
4	chr19:52838600-52840800	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr19:52838600-52840800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr19:52838600-52840800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:52838800-52840800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:52838800-52840800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
9	chr19:52838800-52841200	Active TSS	Fetal Kidney	kidney
10	chr19:52839000-52840600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:52839000-52840600	Active TSS	Muscle Satellite Cultured Cells	--
12	chr19:52839000-52840800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:52839000-52840800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr19:52839000-52840800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr19:52839000-52840800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr19:52839000-52840800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr19:52839000-52840800	Active TSS	Fetal Intestine Large	intestine
18	chr19:52839200-52840600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr19:52839200-52840800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr19:52839200-52840800	Active TSS	HSMMtube	muscle
21	chr19:52839200-52841000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:52839200-52842200	ZNF genes & repeats	Lung	lung
23	chr19:52839400-52840600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr19:52839400-52840600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:52839400-52840600	Active TSS	Fetal Intestine Small	intestine
26	chr19:52839400-52840600	Active TSS	HSMM	muscle
27	chr19:52839400-52840600	Active TSS	NH-A	brain
28	chr19:52839400-52840600	Active TSS	NHDF-Ad	bronchial
29	chr19:52839400-52840800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr19:52839400-52840800	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr19:52839400-52840800	Active TSS	Duodenum Mucosa	Duodenum
32	chr19:52839400-52840800	Active TSS	NHLF	lung
33	chr19:52839600-52840600	Active TSS	HMEC	breast
34	chr19:52839800-52840600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr19:52839800-52840600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr19:52839800-52840600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:52839800-52840600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr19:52840000-52840600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:52840000-52840600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:52840000-52840600	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr19:52840000-52840600	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr19:52840000-52840600	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr19:52840000-52840600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr19:52840000-52840600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr19:52840000-52840600	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr19:52840000-52840800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr19:52840000-52840800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:52840000-52840800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:52840000-52840800	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr19:52840200-52840600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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