Variant report

Variant	rs2284762
Chromosome Location	chr1:168316195-168316196
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168312525..168314328-chr1:168315876..168317472,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10465552	0.94[ASN][1000 genomes]
rs16860403	0.94[ASN][1000 genomes]
rs16860434	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16860445	0.85[ASN][1000 genomes]
rs1886004	0.87[ASN][1000 genomes]
rs2076061	0.94[ASN][1000 genomes]
rs2223293	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2235299	0.93[ASN][1000 genomes]
rs2268561	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2268563	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2268565	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2268566	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2284759	0.83[EUR][1000 genomes]
rs2284760	0.84[EUR][1000 genomes]
rs57956428	0.87[ASN][1000 genomes]
rs59227453	0.97[ASN][1000 genomes]
rs6427125	0.93[ASN][1000 genomes]
rs6672853	0.94[ASN][1000 genomes]
rs7512612	0.90[ASN][1000 genomes]
rs7512814	0.90[ASN][1000 genomes]
rs7512951	0.90[ASN][1000 genomes]
rs7551330	0.90[ASN][1000 genomes]

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	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 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	chr1:168312000-168317200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:168312000-168317600	Weak transcription	Psoas Muscle	Psoas
3	chr1:168312000-168317800	Weak transcription	Left Ventricle	heart
4	chr1:168312200-168318000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:168312200-168318200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:168312200-168318200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:168312400-168317200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:168312400-168317200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:168312400-168317400	Weak transcription	Primary B cells from cord blood	blood
10	chr1:168312400-168318200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:168312600-168317200	Weak transcription	Primary T cells from cord blood	blood
12	chr1:168312600-168317400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:168312600-168317400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:168312800-168317000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:168312800-168317000	Weak transcription	Dnd41	blood
16	chr1:168312800-168317200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:168312800-168317200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:168312800-168317200	Weak transcription	K562	blood
19	chr1:168312800-168317800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:168313000-168317000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:168313000-168317200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:168313000-168317200	Weak transcription	Ovary	ovary
23	chr1:168313000-168318200	Weak transcription	Spleen	Spleen
24	chr1:168313200-168317400	Weak transcription	HepG2	liver
25	chr1:168313200-168317600	Weak transcription	Brain Anterior Caudate	brain
26	chr1:168313200-168317600	Weak transcription	Brain Substantia Nigra	brain
27	chr1:168313600-168317400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:168313600-168317800	Weak transcription	Aorta	Aorta
29	chr1:168314000-168317400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:168314200-168317200	Weak transcription	Liver	Liver
31	chr1:168314200-168317400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:168314200-168317600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:168314200-168317600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:168314200-168318200	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:168315400-168317200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:168315800-168317400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:168316000-168317000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:168316000-168317200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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