Variant report

Variant	rs268684
Chromosome Location	chr19:40930908-40930909
allele	C/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40919789..40935162-chr19:40946854..40955873,58	MCF-7	breast:
2	chr19:40930238..40933445-chr19:40968934..40973094,5	MCF-7	breast:
3	chr19:40930456..40932097-chr19:41118468..41120699,2	K562	blood:
4	chr19:40784375..40786012-chr19:40930322..40931900,2	K562	blood:
5	chr19:40929000..40933496-chr19:40948111..40953156,29	MCF-7	breast:
6	chr19:40930494..40933522-chr19:41110007..41112597,3	K562	blood:
7	chr19:40929690..40933044-chr19:40967590..40972827,9	MCF-7	breast:
8	chr19:40929942..40935093-chr19:40947472..40955743,23	K562	blood:
9	chr19:40929630..40934621-chr19:40969030..40973237,9	K562	blood:
10	chr19:40790880..40792731-chr19:40929438..40932853,4	K562	blood:
11	chr19:40916047..40918713-chr19:40928638..40931104,2	MCF-7	breast:
12	chr19:40925098..40933993-chr19:40944045..40956524,41	K562	blood:
13	chr19:40924946..40933265-chr19:40969030..40973228,17	K562	blood:
14	chr19:40791054..40792631-chr19:40929438..40932083,2	K562	blood:
15	chr19:40930456..40933734-chr19:41119113..41120830,3	K562	blood:
16	chr19:40928606..40931574-chr19:41013757..41016430,2	K562	blood:
17	chr19:40929828..40933213-chr19:41114237..41116915,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000090006	Chromatin interaction
ENSG00000160460	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000090013	Chromatin interaction
ENSG00000268366	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4150981	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150995	0.89[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
7	nsv911709	chr19:40928944-41060616	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40929400-40931000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr19:40929400-40932200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr19:40929400-40932600	Active TSS	Right Ventricle	heart
4	chr19:40929600-40932400	Active TSS	HSMM	muscle
5	chr19:40929600-40932600	Active TSS	Psoas Muscle	Psoas
6	chr19:40929600-40932600	Active TSS	HSMMtube	muscle
7	chr19:40929600-40933000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:40929800-40932200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr19:40929800-40932400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:40929800-40932400	Active TSS	Muscle Satellite Cultured Cells	--
11	chr19:40930000-40931000	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr19:40930000-40931000	Flanking Active TSS	HUVEC	blood vessel
13	chr19:40930000-40931200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr19:40930000-40931200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr19:40930000-40932200	Active TSS	Colonic Mucosa	Colon
16	chr19:40930000-40932200	Active TSS	GM12878-XiMat	blood
17	chr19:40930000-40932200	Active TSS	Hela-S3	cervix
18	chr19:40930000-40932200	Active TSS	HMEC	breast
19	chr19:40930000-40932200	Active TSS	NHEK	skin
20	chr19:40930000-40932200	Active TSS	Osteobl	bone
21	chr19:40930000-40932400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:40930000-40932400	Active TSS	Lung	lung
23	chr19:40930000-40932600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:40930000-40932600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:40930000-40932600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:40930000-40932600	Active TSS	Left Ventricle	heart
27	chr19:40930000-40932600	Active TSS	NH-A	brain
28	chr19:40930000-40932600	Active TSS	NHLF	lung
29	chr19:40930000-40932800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:40930200-40931200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:40930200-40932400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:40930200-40932400	Active TSS	NHDF-Ad	bronchial
33	chr19:40930200-40932600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr19:40930200-40933200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr19:40930400-40931000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr19:40930400-40931000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr19:40930400-40931000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr19:40930400-40931000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr19:40930400-40931000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr19:40930400-40931000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr19:40930400-40931000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr19:40930400-40931000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:40930400-40931000	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr19:40930400-40931000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:40930400-40931000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr19:40930400-40931000	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr19:40930400-40931000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
48	chr19:40930400-40931000	Flanking Active TSS	Fetal Muscle Leg	muscle
49	chr19:40930400-40931000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr19:40930400-40931000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle

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