Variant report

Variant	rs2449376
Chromosome Location	chr1:93921839-93921840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93921576..93924878-chr1:93939803..93941437,3	K562	blood:
2	chr1:93921576..93924345-chr1:93939803..93941370,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1426317	1.00[YRI][hapmap]
rs1545839	1.00[AMR][1000 genomes]
rs1991291	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs237437	1.00[YRI][hapmap]
rs2433277	1.00[AMR][1000 genomes]
rs2449373	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2818971	1.00[YRI][hapmap]
rs810027	1.00[YRI][hapmap]

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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93915200-93922000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:93915200-93922200	Weak transcription	Gastric	stomach
3	chr1:93915200-93923800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:93915200-93926800	Weak transcription	Pancreas	Pancrea
5	chr1:93915200-93927800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:93915200-93928600	Weak transcription	Ovary	ovary
7	chr1:93915200-93929600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:93915200-93929800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:93915200-93935800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:93915200-93937000	Weak transcription	Esophagus	oesophagus
11	chr1:93915200-93937000	Weak transcription	Lung	lung
12	chr1:93915400-93922400	Weak transcription	Fetal Stomach	stomach
13	chr1:93915400-93924600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:93915400-93926600	Weak transcription	Liver	Liver
15	chr1:93915400-93926800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:93915400-93926800	Weak transcription	Psoas Muscle	Psoas
17	chr1:93915400-93929800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:93915400-93931000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:93916000-93922400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:93916400-93923800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:93916400-93924600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:93916400-93926600	Weak transcription	Primary B cells from cord blood	blood
23	chr1:93916400-93934800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:93916600-93923800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:93916600-93925600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:93916600-93926000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:93916800-93922200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:93916800-93922600	Weak transcription	Fetal Lung	lung
29	chr1:93916800-93925600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:93916800-93929400	Weak transcription	Brain Germinal Matrix	brain
31	chr1:93916800-93930400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:93916800-93932800	Weak transcription	Fetal Kidney	kidney
33	chr1:93917400-93922000	Weak transcription	Fetal Intestine Small	intestine
34	chr1:93917600-93937200	Weak transcription	Fetal Brain Male	brain
35	chr1:93918200-93928800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:93919800-93922200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:93919800-93922400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:93919800-93922600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:93919800-93923800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:93919800-93937000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:93920000-93922000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:93920000-93922200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:93920000-93922400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:93920000-93922400	Weak transcription	HepG2	liver
45	chr1:93920000-93922400	Weak transcription	HSMM	muscle
46	chr1:93920000-93922600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:93920000-93924200	Weak transcription	HMEC	breast
48	chr1:93920000-93924400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:93920000-93927600	Weak transcription	Hela-S3	cervix
50	chr1:93920000-93928200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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