Variant report

Variant	rs2449373
Chromosome Location	chr1:93915581-93915582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93912251..93917174-chr1:94311554..94314483,6	MCF-7	breast:
2	chr1:93914879..93917685-chr1:93917983..93919742,2	MCF-7	breast:
3	chr1:93910284..93912598-chr1:93914340..93918021,4	K562	blood:

Variant related genes	Relation type
ENSG00000211575	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1545839	1.00[AMR][1000 genomes]
rs1991291	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2433277	1.00[AMR][1000 genomes]
rs2449376	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93912400-93915600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:93912400-93915800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:93912400-93916200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:93912600-93916600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:93912800-93916000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:93913000-93915800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:93913000-93915800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:93913000-93916200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:93913000-93916400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr1:93913000-93916400	Active TSS	Fetal Intestine Large	intestine
11	chr1:93913000-93916600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr1:93913000-93916600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr1:93913200-93916000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:93913200-93916000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr1:93913200-93916200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:93913200-93916400	Active TSS	HMEC	breast
17	chr1:93913400-93915600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:93913400-93915800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr1:93914200-93916000	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr1:93914600-93916400	Active TSS	Fetal Brain Female	brain
21	chr1:93914800-93916000	Active TSS	Brain Germinal Matrix	brain
22	chr1:93915000-93915800	Active TSS	HepG2	liver
23	chr1:93915000-93916000	Flanking Active TSS	HUVEC	blood vessel
24	chr1:93915000-93919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:93915200-93915600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:93915200-93916600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr1:93915200-93916800	Weak transcription	Fetal Muscle Leg	muscle
28	chr1:93915200-93919400	Weak transcription	Stomach Mucosa	stomach
29	chr1:93915200-93922000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:93915200-93922200	Weak transcription	Gastric	stomach
31	chr1:93915200-93923800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:93915200-93926800	Weak transcription	Pancreas	Pancrea
33	chr1:93915200-93927800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:93915200-93928600	Weak transcription	Ovary	ovary
35	chr1:93915200-93929600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:93915200-93929800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:93915200-93935800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:93915200-93937000	Weak transcription	Esophagus	oesophagus
39	chr1:93915200-93937000	Weak transcription	Lung	lung
40	chr1:93915400-93915600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:93915400-93915600	Enhancers	Adipose Nuclei	Adipose
42	chr1:93915400-93915600	Weak transcription	Fetal Brain Male	brain
43	chr1:93915400-93915600	Flanking Active TSS	Hela-S3	cervix
44	chr1:93915400-93915600	Weak transcription	HSMM	muscle
45	chr1:93915400-93916000	Weak transcription	Fetal Lung	lung
46	chr1:93915400-93916200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:93915400-93916200	Weak transcription	Fetal Kidney	kidney
48	chr1:93915400-93916400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:93915400-93916400	Enhancers	Primary B cells from cord blood	blood
50	chr1:93915400-93916400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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