Variant report

Variant	rs28370168
Chromosome Location	chr1:223959185-223959186
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223958981..223961667-chr1:224244026..224246906,2	K562	blood:
2	chr1:223959045..223962573-chr1:223982602..223986038,3	K562	blood:
3	chr1:223957411..223959662-chr1:224032167..224034658,2	MCF-7	breast:
4	chr1:223898558..223902031-chr1:223957339..223960421,3	K562	blood:
5	chr1:223958219..223959890-chr1:224031249..224033872,2	K562	blood:
6	chr1:223950388..223952525-chr1:223958515..223960018,2	K562	blood:

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12038706	1.00[AMR][1000 genomes]
rs16842157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16842168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16842198	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370148	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370180	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370183	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56831338	1.00[AMR][1000 genomes]
rs57108544	1.00[AMR][1000 genomes]
rs57153784	1.00[AMR][1000 genomes]
rs58391315	1.00[AMR][1000 genomes]
rs59173114	1.00[AMR][1000 genomes]
rs60245976	1.00[AMR][1000 genomes]
rs60956486	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73114404	1.00[AMR][1000 genomes]
rs73114482	1.00[AMR][1000 genomes]
rs73114500	1.00[AMR][1000 genomes]
rs73115632	1.00[AMR][1000 genomes]
rs73116433	1.00[AMR][1000 genomes]
rs73116444	1.00[AMR][1000 genomes]
rs73116448	1.00[AMR][1000 genomes]
rs73127419	1.00[AMR][1000 genomes]
rs73127431	1.00[AMR][1000 genomes]
rs73127434	1.00[AMR][1000 genomes]
rs73127439	1.00[AMR][1000 genomes]
rs73128039	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73128040	1.00[AMR][1000 genomes]
rs73128044	1.00[AMR][1000 genomes]
rs73131132	1.00[AMR][1000 genomes]
rs73131150	1.00[AMR][1000 genomes]
rs73131157	1.00[AMR][1000 genomes]
rs73131162	1.00[AMR][1000 genomes]
rs73131164	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223937000-223960000	Weak transcription	Thymus	Thymus
2	chr1:223941000-223959400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:223941200-223961600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:223954400-223961800	Weak transcription	HepG2	liver
5	chr1:223954800-223964000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:223956600-223959200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:223956600-223959200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:223956600-223959200	Strong transcription	Fetal Kidney	kidney
9	chr1:223956600-223959200	Strong transcription	Fetal Lung	lung
10	chr1:223956600-223959400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:223956600-223959400	Strong transcription	Rectal Smooth Muscle	rectum
12	chr1:223956600-223960000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:223956600-223960400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:223956600-223960800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:223956600-223962800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:223956600-223963400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:223956600-223963600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:223956600-223963600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:223956600-223963800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:223956600-223967000	Strong transcription	Lung	lung
21	chr1:223956600-223967200	Strong transcription	Colonic Mucosa	Colon
22	chr1:223956600-223968400	Strong transcription	Fetal Brain Female	brain
23	chr1:223956600-223969000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:223956600-223969000	Strong transcription	Fetal Stomach	stomach
25	chr1:223956600-224004600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:223956600-224004600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:223956800-223959200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:223956800-223959600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
29	chr1:223956800-223963000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:223956800-223963200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:223956800-223969000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr1:223956800-223969200	Strong transcription	Placenta	Placenta
33	chr1:223956800-223974200	Strong transcription	Primary T cells from cord blood	blood
34	chr1:223956800-223974200	Strong transcription	Liver	Liver
35	chr1:223957000-223962400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:223957000-223964000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:223957000-223983400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:223957200-223959200	Genic enhancers	HSMMtube	muscle
39	chr1:223957200-223959400	Genic enhancers	HUVEC	blood vessel
40	chr1:223957200-223965000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:223957200-223968000	Strong transcription	Brain Germinal Matrix	brain
42	chr1:223957200-223968800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:223957200-223972800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr1:223957400-223959200	Genic enhancers	K562	blood
45	chr1:223957400-223960600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:223957400-223960800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:223957400-223962200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:223957600-223959200	Genic enhancers	Osteobl	bone
49	chr1:223957600-223959600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:223957600-223959600	Strong transcription	Fetal Brain Male	brain

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