Variant report

Variant	rs41275760
Chromosome Location	chr19:45861997-45861998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45860417..45862334-chr19:45872062..45875025,2	K562	blood:
2	chr19:45852036..45852877-chr19:45861513..45862083,2	MCF-7	breast:
3	chr19:45861039..45863912-chr19:45864556..45866259,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104884	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58504789	1.00[EUR][1000 genomes]
rs60305372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv833844	chr19:45684309-45887406	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv912146	chr19:45788612-45862515	Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv532822	chr19:45790514-46237336	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	200 gene(s)	inside rSNPs	diseases
5	esv3431890	chr19:45811595-45964975	Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv833845	chr19:45812072-45960629	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv1063547	chr19:45825626-45903462	Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv470146	chr19:45826366-45876967	Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv458711	chr19:45826366-45912002	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv579867	chr19:45826366-45912002	Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv817850	chr19:45837269-45876967	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv579868	chr19:45837283-45862883	Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv817852	chr19:45844650-45876967	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
14	nsv1061400	chr19:45850693-45895979	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv1060010	chr19:45850693-45903462	Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv442466	chr19:45850705-45891924	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
17	nsv515681	chr19:45856144-45867259	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv1061584	chr19:45856926-45895979	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
19	esv2755445	chr19:45856960-45889660	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
20	esv2756033	chr19:45856960-45889660	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
21	nsv579869	chr19:45860126-45868309	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	esv1826842	chr19:45861285-45972347	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
23	nsv428024	chr19:45861285-45972347	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
24	nsv428365	chr19:45861285-45972347	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45844400-45873000	Weak transcription	Right Atrium	heart
2	chr19:45849000-45864400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:45849800-45873200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:45850200-45863000	Strong transcription	NHEK	skin
5	chr19:45850400-45873200	Weak transcription	Stomach Mucosa	stomach
6	chr19:45851200-45872800	Weak transcription	Colon Smooth Muscle	Colon
7	chr19:45851400-45872000	Weak transcription	Fetal Brain Male	brain
8	chr19:45852000-45863400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr19:45852200-45864600	Weak transcription	Fetal Kidney	kidney
10	chr19:45852200-45870000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:45852200-45872200	Weak transcription	NHDF-Ad	bronchial
12	chr19:45852200-45872400	Strong transcription	Fetal Stomach	stomach
13	chr19:45852400-45863000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:45852400-45863400	Strong transcription	Fetal Brain Female	brain
15	chr19:45852400-45870400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:45852400-45872200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr19:45852400-45872200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:45852400-45872400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:45852400-45873200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:45852600-45862800	Strong transcription	NHLF	lung
21	chr19:45852600-45863000	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr19:45852600-45863000	Strong transcription	Brain Germinal Matrix	brain
23	chr19:45852600-45868000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:45852600-45869800	Strong transcription	Fetal Muscle Leg	muscle
25	chr19:45852600-45870000	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr19:45852600-45871800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:45852600-45872200	Strong transcription	Fetal Intestine Small	intestine
28	chr19:45852600-45872600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr19:45852600-45873200	Weak transcription	Psoas Muscle	Psoas
30	chr19:45852800-45869200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr19:45852800-45869400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:45853200-45863000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:45853200-45863000	Strong transcription	Gastric	stomach
34	chr19:45853200-45863000	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:45853200-45867000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:45853200-45868400	Strong transcription	Lung	lung
37	chr19:45853200-45873200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr19:45853400-45862200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:45853400-45868600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:45853400-45873200	Weak transcription	Small Intestine	intestine
41	chr19:45853600-45863000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:45853600-45863000	Strong transcription	Right Ventricle	heart
43	chr19:45853600-45863000	Strong transcription	Osteobl	bone
44	chr19:45853600-45869400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:45853600-45869600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr19:45853800-45862600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr19:45854000-45862800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:45854000-45863000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr19:45854000-45863000	Strong transcription	Primary T cells from cord blood	blood
50	chr19:45854000-45866200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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