Variant report

Variant	rs232868
Chromosome Location	chr1:59119143-59119144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59037535..59044875-chr1:59111123..59123546,29	MCF-7	breast:
2	chr1:59112857..59115796-chr1:59116639..59119462,3	MCF-7	breast:
3	chr1:58981616..58982437-chr1:59119026..59119889,2	K562	blood:
4	chr1:59045065..59047572-chr1:59117802..59119674,2	MCF-7	breast:
5	chr1:59036598..59046417-chr1:59110760..59123309,33	MCF-7	breast:
6	chr1:58977602..58982967-chr1:59116778..59119321,4	MCF-7	breast:
7	chr1:59009441..59012454-chr1:59115499..59119409,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184292	Chromatin interaction
ENSG00000173406	Chromatin interaction
ENSG00000162600	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs232850	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs232883	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2746078	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2746079	1.00[AMR][1000 genomes]
rs2746080	1.00[AMR][1000 genomes]
rs2811859	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2811864	1.00[AMR][1000 genomes]
rs2811871	1.00[AMR][1000 genomes]
rs2811889	1.00[AMR][1000 genomes]
rs2811892	1.00[AMR][1000 genomes]
rs471446	0.89[AMR][1000 genomes]
rs472129	0.89[AMR][1000 genomes]
rs489260	0.89[AMR][1000 genomes]
rs500863	0.89[AMR][1000 genomes]
rs504996	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519331	0.89[AMR][1000 genomes]
rs522103	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs528387	0.89[AMR][1000 genomes]
rs528642	0.89[AMR][1000 genomes]
rs529289	0.89[AMR][1000 genomes]
rs553540	0.89[AMR][1000 genomes]
rs568320	0.89[AMR][1000 genomes]
rs583854	0.89[AMR][1000 genomes]
rs586509	0.89[AMR][1000 genomes]
rs595083	0.89[AMR][1000 genomes]
rs631352	0.89[AMR][1000 genomes]
rs646018	0.89[AMR][1000 genomes]
rs662989	0.89[AMR][1000 genomes]
rs674205	0.89[AMR][1000 genomes]
rs675496	0.89[AMR][1000 genomes]
rs675919	0.89[AMR][1000 genomes]
rs678233	0.89[AMR][1000 genomes]
rs678283	0.89[AMR][1000 genomes]
rs679619	0.89[AMR][1000 genomes]
rs688158	0.89[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	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59096000-59121600	Weak transcription	HUVEC	blood vessel
2	chr1:59096600-59121600	Weak transcription	Gastric	stomach
3	chr1:59102000-59130400	Weak transcription	Aorta	Aorta
4	chr1:59108200-59130400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:59108600-59121600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:59109000-59121600	Weak transcription	HepG2	liver
7	chr1:59109400-59121600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:59110400-59121600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:59110400-59123600	Weak transcription	HSMMtube	muscle
10	chr1:59110600-59119200	Weak transcription	Placenta	Placenta
11	chr1:59110800-59125200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:59112400-59121600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:59112800-59125600	Weak transcription	NHLF	lung
14	chr1:59114400-59121600	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:59114400-59130200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:59114600-59121600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:59115000-59122800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:59115000-59132800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:59115200-59119200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:59115200-59121600	Weak transcription	Primary T cells from cord blood	blood
21	chr1:59115400-59121400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:59115400-59121600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:59115400-59121600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:59115400-59123800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:59115600-59121600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:59115600-59121600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:59115600-59121600	Weak transcription	Thymus	Thymus
28	chr1:59115600-59121800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:59115600-59123000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:59115600-59124400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:59115600-59138400	Weak transcription	Small Intestine	intestine
32	chr1:59115800-59119800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:59115800-59120000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:59115800-59121000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:59115800-59121200	Weak transcription	Primary B cells from cord blood	blood
36	chr1:59115800-59121400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:59115800-59121600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:59115800-59121600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:59115800-59121600	Weak transcription	Esophagus	oesophagus
40	chr1:59115800-59121600	Weak transcription	Fetal Lung	lung
41	chr1:59115800-59121600	Weak transcription	Lung	lung
42	chr1:59115800-59121600	Weak transcription	Ovary	ovary
43	chr1:59115800-59121600	Weak transcription	Pancreas	Pancrea
44	chr1:59115800-59121600	Weak transcription	Right Ventricle	heart
45	chr1:59115800-59121600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:59115800-59121800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:59115800-59121800	Weak transcription	Left Ventricle	heart
48	chr1:59115800-59123000	Weak transcription	Psoas Muscle	Psoas
49	chr1:59115800-59124800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr1:59115800-59125000	Weak transcription	Fetal Brain Female	brain

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