Variant report

Variant	rs4421551
Chromosome Location	chr1:179315898-179315899
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179315802..179317742-chr1:179327309..179329268,2	K562	blood:
2	chr1:179314011..179316743-chr1:179317198..179320043,2	K562	blood:
3	chr1:179261912..179264467-chr1:179313942..179316618,2	MCF-7	breast:
4	chr1:179315825..179319571-chr1:179319821..179322785,4	K562	blood:

Variant related genes	Relation type
ENSG00000057252	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10753193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10798672	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10798682	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs10913776	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs10913804	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs10913807	1.00[JPT][hapmap]
rs12122753	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12131398	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs12131400	1.00[JPT][hapmap]
rs12136100	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1328596	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1831180	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1928004	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs4255343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4360482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4606280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4625242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4652404	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs6659294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6662859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6696896	1.00[JPT][hapmap]
rs6697280	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6697285	0.82[EUR][1000 genomes]
rs6697373	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6698201	1.00[JPT][hapmap]
rs7512551	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs7514278	1.00[JPT][hapmap]
rs7518843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522064	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7529133	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7535603	0.90[CEU][hapmap]
rs7540732	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7542099	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs964982	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv1804302	chr1:179315357-179333194	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179264800-179334200	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:179266400-179322800	Weak transcription	Small Intestine	intestine
3	chr1:179292400-179328000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:179293000-179322600	Weak transcription	Fetal Heart	heart
5	chr1:179294200-179324600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:179296800-179327800	Weak transcription	Colonic Mucosa	Colon
7	chr1:179297400-179321600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:179298600-179324200	Weak transcription	Thymus	Thymus
9	chr1:179299400-179316800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:179300400-179334600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:179300600-179322400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:179301800-179322800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:179303200-179324600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:179303400-179322600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:179304200-179316000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:179304200-179316600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:179304200-179320000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:179304200-179324400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:179304200-179324400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:179304200-179324600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:179304200-179325200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:179304400-179318400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:179304400-179324400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:179304600-179316000	Strong transcription	Hela-S3	cervix
25	chr1:179304600-179324200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:179305200-179327200	Weak transcription	Right Ventricle	heart
27	chr1:179305600-179334200	Weak transcription	Pancreas	Pancrea
28	chr1:179305800-179322600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:179306000-179321000	Strong transcription	Dnd41	blood
30	chr1:179306800-179324600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:179307200-179316800	Strong transcription	Adipose Nuclei	Adipose
32	chr1:179307400-179325800	Weak transcription	Esophagus	oesophagus
33	chr1:179307600-179322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:179307600-179325200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:179307800-179322200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:179308000-179321000	Weak transcription	Fetal Brain Male	brain
37	chr1:179308000-179324400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:179308400-179316000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr1:179308400-179322600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:179308600-179316000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:179308600-179316400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:179308600-179318000	Strong transcription	Fetal Intestine Large	intestine
43	chr1:179308600-179322000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:179308800-179318000	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:179308800-179320800	Strong transcription	Osteobl	bone
46	chr1:179309800-179326400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:179310000-179325200	Strong transcription	Primary T cells from cord blood	blood
48	chr1:179310200-179322000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:179310200-179323000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:179310400-179322800	Weak transcription	Aorta	Aorta

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