Variant report

Variant	rs16845266
Chromosome Location	chr1:225961331-225961332
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225741016..225742575-chr1:225960574..225962350,2	MCF-7	breast:
2	chr1:225948046..225950619-chr1:225959798..225962169,2	MCF-7	breast:
3	chr1:225959696..225961881-chr1:225997268..225998979,3	MCF-7	breast:
4	chr1:225958118..225962710-chr1:225963667..225967066,7	K562	blood:
5	chr1:225907278..225910791-chr1:225959597..225963050,3	MCF-7	breast:
6	chr1:225956937..225960087-chr1:225960479..225963654,4	K562	blood:
7	chr1:225960600..225963224-chr1:225967142..225968691,2	K562	blood:
8	chr1:225838129..225843793-chr1:225950745..225961465,25	MCF-7	breast:
9	chr1:225957183..225958827-chr1:225960049..225962643,2	MCF-7	breast:
10	chr1:225959006..225964473-chr1:225964619..225968366,9	MCF-7	breast:
11	chr1:225954921..225956765-chr1:225958660..225961642,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000143819	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16845205	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs34085123	0.84[EUR][1000 genomes]
rs6656088	0.82[EUR][1000 genomes]
rs6672161	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6693328	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6695625	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6702107	0.82[EUR][1000 genomes]
rs74148661	0.84[EUR][1000 genomes]
rs74148698	0.81[EUR][1000 genomes]
rs7520182	0.82[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7532354	0.87[CEU][hapmap]
rs7538185	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7545556	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225952200-225964400	Weak transcription	Fetal Brain Female	brain
2	chr1:225952200-225965600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:225954800-225964400	Weak transcription	Small Intestine	intestine
4	chr1:225956800-225964600	Weak transcription	Right Ventricle	heart
5	chr1:225957000-225965000	Weak transcription	Gastric	stomach
6	chr1:225957400-225962200	Enhancers	HepG2	liver
7	chr1:225958000-225962200	Enhancers	A549	lung
8	chr1:225958000-225963600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:225958200-225961400	Enhancers	Placenta	Placenta
10	chr1:225958200-225963400	Enhancers	HSMM	muscle
11	chr1:225958600-225962600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:225958600-225963200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:225958600-225964800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:225959200-225964600	Weak transcription	Psoas Muscle	Psoas
15	chr1:225959200-225964800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:225959600-225961400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:225959600-225962400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:225959600-225962600	Enhancers	Stomach Mucosa	stomach
19	chr1:225959600-225964800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:225959600-225964800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:225959800-225961600	Enhancers	NHEK	skin
22	chr1:225959800-225964400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:225960000-225961400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:225960000-225964600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:225960000-225964600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:225960200-225963200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr1:225960200-225964200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:225960200-225964400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:225960200-225964800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:225960400-225961600	Enhancers	Pancreas	Pancrea
31	chr1:225960400-225962600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:225960400-225962800	Enhancers	Stomach Smooth Muscle	stomach
33	chr1:225960400-225963200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:225960400-225963800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:225960400-225964200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:225960400-225964400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:225960400-225964400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:225960400-225964400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:225960400-225964400	Weak transcription	Brain Substantia Nigra	brain
40	chr1:225960400-225964400	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:225960400-225964400	Weak transcription	HUVEC	blood vessel
42	chr1:225960400-225964400	Weak transcription	NHDF-Ad	bronchial
43	chr1:225960400-225964600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:225960400-225965000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:225960600-225963200	Enhancers	HSMMtube	muscle
46	chr1:225960600-225964200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:225960600-225964400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:225960600-225964600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:225960600-225964600	Weak transcription	Fetal Brain Male	brain
50	chr1:225960600-225964600	Weak transcription	Fetal Heart	heart

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