Variant report

Variant	rs4951568
Chromosome Location	chr1:212292090-212292091
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	chr1:212290433..212293269-chr1:212324865..212326922,2	K562	blood:
2	chr1:212291193..212294935-chr1:212295149..212298411,5	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10863941	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10863942	0.96[ASN][1000 genomes]
rs11809969	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12042024	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12043586	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1826156	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2884459	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4245745	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951571	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4951572	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6540721	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6699232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7523723	0.80[AMR][1000 genomes];0.93[ASN][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212274200-212301600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212274400-212308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:212277000-212298200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:212280000-212299600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:212281200-212308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:212283800-212300400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:212284000-212298400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:212284400-212292400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:212284400-212294600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:212284400-212294600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:212284400-212300400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:212285000-212303200	Weak transcription	Fetal Stomach	stomach
13	chr1:212285400-212299600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:212285600-212311200	Weak transcription	Hela-S3	cervix
15	chr1:212285800-212298400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:212286600-212298200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:212287400-212320600	Weak transcription	A549	lung
18	chr1:212287600-212298200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:212287800-212298200	Weak transcription	Fetal Thymus	thymus
20	chr1:212290800-212292200	Enhancers	K562	blood
21	chr1:212290800-212296200	Strong transcription	Dnd41	blood
22	chr1:212291000-212292200	Enhancers	Right Ventricle	heart
23	chr1:212291000-212292400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:212291400-212292200	Enhancers	Fetal Intestine Large	intestine
25	chr1:212291600-212293200	Enhancers	Left Ventricle	heart
26	chr1:212291600-212293400	Enhancers	Fetal Heart	heart
27	chr1:212291600-212293600	Enhancers	Stomach Mucosa	stomach
28	chr1:212291800-212292800	Enhancers	HepG2	liver
29	chr1:212291800-212293000	Enhancers	Esophagus	oesophagus
30	chr1:212291800-212293200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:212291800-212293600	Enhancers	Psoas Muscle	Psoas
32	chr1:212292000-212292600	Enhancers	Thymus	Thymus
33	chr1:212292000-212292800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:212292000-212293000	Enhancers	GM12878-XiMat	blood
35	chr1:212292000-212293200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:212292000-212293200	Enhancers	Spleen	Spleen
37	chr1:212292000-212293600	Enhancers	Gastric	stomach
38	chr1:212292000-212293600	Enhancers	Right Atrium	heart

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