Variant report

Variant	rs268675
Chromosome Location	chr19:40943297-40943298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40930168..40933020-chr19:40943160..40946840,3	MCF-7	breast:
2	chr19:40930428..40932998-chr19:40942999..40947020,6	K562	blood:
3	chr19:40942505..40944262-chr19:40952236..40954186,2	K562	blood:

Variant related genes	Relation type
ENSG00000197019	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10402565	1.00[AMR][1000 genomes]
rs10408716	1.00[AMR][1000 genomes]
rs183852	1.00[AMR][1000 genomes]
rs187908	1.00[AMR][1000 genomes]
rs268658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268665	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs268681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4150994	1.00[AFR][1000 genomes];1.00[AMR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40939600-40945200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:40939600-40946000	Weak transcription	Gastric	stomach
3	chr19:40939800-40945400	Weak transcription	NHLF	lung
4	chr19:40939800-40946000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:40939800-40946600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:40939800-40948200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:40939800-40948200	Weak transcription	Small Intestine	intestine
8	chr19:40940200-40945000	Weak transcription	Fetal Lung	lung
9	chr19:40940200-40945400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:40940200-40945400	Weak transcription	Brain Germinal Matrix	brain
11	chr19:40940200-40946000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr19:40940200-40946000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:40940200-40946000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:40940200-40946000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr19:40940200-40946000	Weak transcription	HSMM	muscle
16	chr19:40940200-40946000	Weak transcription	NHEK	skin
17	chr19:40940200-40946200	Weak transcription	Fetal Kidney	kidney
18	chr19:40940200-40946400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:40940200-40946400	Weak transcription	Ovary	ovary
20	chr19:40940200-40946600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:40940200-40948000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr19:40940400-40943600	Weak transcription	Fetal Stomach	stomach
23	chr19:40940400-40944200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:40940400-40945200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr19:40940400-40945400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:40940400-40945400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:40940400-40945400	Weak transcription	Adipose Nuclei	Adipose
28	chr19:40940400-40945400	Weak transcription	HMEC	breast
29	chr19:40940400-40945400	Weak transcription	NH-A	brain
30	chr19:40940400-40945600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:40940400-40945600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:40940400-40945600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr19:40940400-40945600	Weak transcription	Fetal Intestine Small	intestine
34	chr19:40940400-40945800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:40940400-40945800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:40940400-40946000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr19:40940400-40946000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:40940400-40946000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:40940400-40946000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr19:40940400-40946000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:40940400-40946000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr19:40940400-40946000	Weak transcription	Left Ventricle	heart
43	chr19:40940400-40946000	Weak transcription	Lung	lung
44	chr19:40940400-40946000	Weak transcription	NHDF-Ad	bronchial
45	chr19:40940400-40946000	Weak transcription	Osteobl	bone
46	chr19:40940400-40946200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:40940400-40946200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:40940400-40946200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr19:40940400-40946200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:40940400-40946200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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