Variant report

Variant	rs61424226
Chromosome Location	chr1:47115502-47115503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47107881..47110216-chr1:47113427..47115932,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs45482605	1.00[AMR][1000 genomes]
rs45595838	1.00[AMR][1000 genomes]
rs6656488	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1007280	chr1:47088116-47129588	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47088200-47131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:47090200-47121400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:47094600-47119200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:47101600-47130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:47101600-47133000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:47101800-47119000	Weak transcription	Colonic Mucosa	Colon
7	chr1:47101800-47121200	Weak transcription	HUVEC	blood vessel
8	chr1:47102000-47122400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:47102400-47121400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:47103000-47132800	Weak transcription	Spleen	Spleen
11	chr1:47105000-47132800	Weak transcription	Stomach Mucosa	stomach
12	chr1:47108200-47123400	Weak transcription	K562	blood
13	chr1:47109400-47129800	Weak transcription	Pancreas	Pancrea
14	chr1:47109400-47132600	Weak transcription	Hela-S3	cervix
15	chr1:47109600-47123400	Weak transcription	NH-A	brain
16	chr1:47109600-47132600	Weak transcription	HMEC	breast
17	chr1:47109800-47116600	Strong transcription	Left Ventricle	heart
18	chr1:47109800-47123200	Weak transcription	HepG2	liver
19	chr1:47112200-47125600	Strong transcription	Liver	Liver
20	chr1:47112400-47116200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:47112400-47116600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:47112400-47126800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:47112600-47116600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:47112600-47116800	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:47112800-47116000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:47112800-47116400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:47112800-47116400	Strong transcription	Thymus	Thymus
28	chr1:47112800-47116600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:47112800-47116800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:47112800-47125400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:47112800-47125800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:47113000-47116600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:47113000-47116600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr1:47113000-47124400	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:47113200-47115600	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:47113200-47116200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:47113200-47116600	ZNF genes & repeats	Fetal Brain Female	brain
38	chr1:47113200-47116600	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr1:47113400-47116600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
40	chr1:47113600-47115800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:47113600-47121800	Weak transcription	NHEK	skin
42	chr1:47113800-47116000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
43	chr1:47113800-47116000	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr1:47113800-47116000	ZNF genes & repeats	Fetal Stomach	stomach
45	chr1:47113800-47116600	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr1:47113800-47118400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:47114400-47116000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr1:47114400-47116600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:47114600-47116200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr1:47114600-47116400	ZNF genes & repeats	Brain Germinal Matrix	brain

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