Variant report

Variant	rs57174828
Chromosome Location	chr1:211850060-211850061
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr1:211849904-211850363	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:211848085..211850808-chr1:212208417..212210048,2	K562	blood:
2	chr1:211751583..211753296-chr1:211847712..211850652,2	MCF-7	breast:
3	chr1:211848085..211850740-chr1:212207683..212210151,5	K562	blood:

Variant related genes	Relation type
NEK2	TF binding region
ENSG00000170385	Chromatin interaction
ENSG00000143476	Chromatin interaction
ENSG00000143493	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17017862	1.00[AMR][1000 genomes]
rs17017912	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17017917	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17017925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59680042	1.00[AMR][1000 genomes]
rs61557483	1.00[AMR][1000 genomes]
rs6661346	1.00[AMR][1000 genomes]
rs73075314	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075316	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075319	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73075326	1.00[AMR][1000 genomes]
rs73075338	1.00[AMR][1000 genomes]
rs73075364	1.00[AMR][1000 genomes]
rs73075368	1.00[AMR][1000 genomes]
rs73075374	1.00[AMR][1000 genomes]
rs73075379	1.00[AMR][1000 genomes]
rs73075380	1.00[AMR][1000 genomes]
rs73078726	1.00[AMR][1000 genomes]
rs73078738	1.00[AMR][1000 genomes]
rs73078742	1.00[AMR][1000 genomes]
rs73078769	1.00[AMR][1000 genomes]
rs7539737	0.97[AFR][1000 genomes];1.00[AMR][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	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211849400-211854000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:211849400-211854000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:211849400-211854000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:211849400-211854000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:211849400-211854400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:211849400-211854400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:211849600-211850200	Flanking Active TSS	HepG2	liver
8	chr1:211849600-211850600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:211849600-211852200	Enhancers	Primary B cells from cord blood	blood
10	chr1:211849600-211852200	Enhancers	GM12878-XiMat	blood
11	chr1:211849600-211853400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:211849600-211853800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:211849600-211854000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:211849600-211854000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:211849600-211854000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:211849600-211854000	Weak transcription	Brain Anterior Caudate	brain
17	chr1:211849600-211854000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:211849600-211854000	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:211849600-211854000	Weak transcription	NH-A	brain
20	chr1:211849600-211854400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:211849600-211854400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:211849600-211854400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:211849600-211854400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:211849600-211854400	Weak transcription	Fetal Lung	lung
25	chr1:211849600-211854400	Weak transcription	HMEC	breast
26	chr1:211849800-211850200	Weak transcription	Brain Substantia Nigra	brain
27	chr1:211849800-211850200	Enhancers	Duodenum Mucosa	Duodenum
28	chr1:211849800-211850200	Enhancers	A549	lung
29	chr1:211849800-211850200	Flanking Active TSS	K562	blood
30	chr1:211849800-211854000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:211849800-211854000	Weak transcription	Dnd41	blood
32	chr1:211849800-211854200	Weak transcription	NHEK	skin
33	chr1:211849800-211854400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:211850000-211850800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:211850000-211853800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:211850000-211854000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:211850000-211854000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:211850000-211854000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:211850000-211854200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:211850000-211854400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:211850000-211854400	Weak transcription	Hela-S3	cervix
42	chr1:211850000-211856600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:211850000-211857200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:211850000-211857400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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