Variant report

Variant	rs321916
Chromosome Location	chr19:52841481-52841482
allele	C/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	chr19:52841087..52844060-chr19:52845758..52847842,2	MCF-7	breast:
3	chr19:52828291..52831274-chr19:52840252..52843029,2	K562	blood:
4	chr19:52835793..52838110-chr19:52840085..52841943,2	K562	blood:
5	chr19:52839189..52842101-chr19:52900021..52902093,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167554	Chromatin interaction
ENSG00000167555	Chromatin interaction
ENSG00000269834	Chromatin interaction
ENSG00000196214	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs167706	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs321931	1.00[AMR][1000 genomes]
rs73588042	1.00[AMR][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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52802400-52841800	ZNF genes & repeats	Liver	Liver
2	chr19:52839200-52842200	ZNF genes & repeats	Lung	lung
3	chr19:52840400-52841800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:52840400-52842000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:52840400-52848200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:52840400-52857400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:52840400-52865400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:52840600-52841600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:52840600-52842000	Weak transcription	Spleen	Spleen
10	chr19:52840600-52842200	Weak transcription	NH-A	brain
11	chr19:52840600-52842400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:52840600-52842600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr19:52840600-52847000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:52840600-52847000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:52840600-52847000	Weak transcription	Brain Anterior Caudate	brain
16	chr19:52840600-52847000	Weak transcription	Brain Substantia Nigra	brain
17	chr19:52840600-52847600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:52840600-52848400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr19:52840600-52850400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:52840600-52850800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr19:52840600-52850800	Weak transcription	Ovary	ovary
22	chr19:52840600-52851000	Weak transcription	Colon Smooth Muscle	Colon
23	chr19:52840600-52851000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr19:52840600-52851000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr19:52840600-52851200	Weak transcription	Placenta	Placenta
26	chr19:52840600-52851600	Weak transcription	Left Ventricle	heart
27	chr19:52840600-52853200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:52840600-52854800	Weak transcription	Gastric	stomach
29	chr19:52840600-52856800	Weak transcription	HSMM	muscle
30	chr19:52840600-52858800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr19:52840600-52861200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:52840800-52841600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:52840800-52841600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
34	chr19:52840800-52841600	Weak transcription	Fetal Intestine Small	intestine
35	chr19:52840800-52842600	Weak transcription	Fetal Intestine Large	intestine
36	chr19:52840800-52842600	Weak transcription	NHLF	lung
37	chr19:52840800-52844000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr19:52840800-52844000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr19:52840800-52844800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr19:52840800-52846000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:52840800-52850200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:52840800-52850400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr19:52840800-52850800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr19:52840800-52851000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr19:52840800-52851000	Weak transcription	Fetal Muscle Leg	muscle
46	chr19:52840800-52851200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr19:52840800-52851400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:52840800-52851600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:52840800-52857000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr19:52840800-52857000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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