Variant report

Variant	rs59975097
Chromosome Location	chr1:45817320-45817321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45816794..45819042-chr1:46048797..46050482,2	K562	blood:
2	chr1:45815294..45817609-chr1:45955237..45956866,2	MCF-7	breast:
3	chr1:45814168..45815718-chr1:45816815..45819472,2	MCF-7	breast:
4	chr1:45816185..45818025-chr1:46082900..46084445,2	K562	blood:
5	chr1:45185465..45188755-chr1:45815242..45819261,5	K562	blood:

Variant related genes	Relation type
ENSG00000132780	Chromatin interaction
ENSG00000070759	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1007005	1.00[AMR][1000 genomes]
rs1561794	1.00[AMR][1000 genomes]
rs1892476	1.00[AMR][1000 genomes]
rs2211646	1.00[AMR][1000 genomes]
rs3219497	1.00[AMR][1000 genomes]
rs58600794	1.00[AMR][1000 genomes]
rs58829168	1.00[AMR][1000 genomes]
rs59089628	1.00[AMR][1000 genomes]
rs59351600	1.00[AMR][1000 genomes]
rs60789611	1.00[AMR][1000 genomes]
rs72890576	1.00[AMR][1000 genomes]
rs72890601	1.00[AMR][1000 genomes]
rs72892514	1.00[AMR][1000 genomes]
rs72892526	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv2750837	chr1:45796115-45908263	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45806600-45821600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:45807200-45825800	Weak transcription	Small Intestine	intestine
3	chr1:45808800-45825600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:45810000-45819800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:45810600-45825600	Weak transcription	Fetal Kidney	kidney
6	chr1:45810800-45820800	Weak transcription	HUVEC	blood vessel
7	chr1:45811200-45820800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:45811200-45825600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:45811200-45825600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:45811200-45825600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:45811400-45825800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:45811400-45825800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:45811600-45825800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:45812000-45826000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:45812200-45825800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:45812400-45820600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:45812400-45821200	Weak transcription	Primary T cells from cord blood	blood
18	chr1:45812400-45825600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:45812400-45825800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:45812600-45817800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr1:45812600-45819200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:45812600-45819600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:45812600-45825600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:45812600-45825800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:45812600-45825800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:45812600-45826400	Weak transcription	Colonic Mucosa	Colon
27	chr1:45812800-45821800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:45812800-45822200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:45812800-45824400	Weak transcription	Gastric	stomach
30	chr1:45812800-45825600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:45812800-45825800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:45812800-45835800	Weak transcription	Thymus	Thymus
33	chr1:45813000-45822200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:45813000-45825800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:45813200-45825800	Weak transcription	Spleen	Spleen
36	chr1:45813600-45818600	Weak transcription	Fetal Intestine Small	intestine
37	chr1:45813600-45819000	Weak transcription	Fetal Intestine Large	intestine
38	chr1:45813800-45825400	Weak transcription	Fetal Stomach	stomach
39	chr1:45815000-45819000	Weak transcription	Brain Angular Gyrus	brain
40	chr1:45815000-45820800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:45815000-45821200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:45815000-45821400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:45815200-45819000	Weak transcription	Psoas Muscle	Psoas
44	chr1:45815200-45819200	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:45815200-45819800	Weak transcription	Lung	lung
46	chr1:45815200-45825600	Weak transcription	Fetal Lung	lung
47	chr1:45815200-45825800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:45815200-45825800	Weak transcription	Right Atrium	heart
49	chr1:45815400-45817600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:45815400-45819000	Weak transcription	Brain Substantia Nigra	brain

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