Variant report

Variant	rs2746078
Chromosome Location	chr1:59153331-59153332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59152856..59154834-chr1:59244165..59246335,3	K562	blood:
2	chr1:59149494..59151005-chr1:59152477..59155312,2	MCF-7	breast:
3	chr1:59152225..59156137-chr1:59164048..59166851,4	MCF-7	breast:
4	chr1:59152149..59156069-chr1:59161646..59166160,4	K562	blood:
5	chr1:59147437..59149691-chr1:59153291..59155135,2	K562	blood:

Variant related genes	Relation type
ENSG00000162601	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	0.87[AMR][1000 genomes]
rs232868	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs232883	1.00[AMR][1000 genomes]
rs2746079	1.00[AMR][1000 genomes]
rs2746080	1.00[AMR][1000 genomes]
rs2811859	1.00[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	1.00[AMR][1000 genomes]
rs519331	0.89[AMR][1000 genomes]
rs522103	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59118200-59163400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:59119800-59155000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:59119800-59162200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:59119800-59163200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:59120000-59153400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:59121000-59161200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:59121400-59161000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:59121600-59161200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:59121600-59161200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:59122200-59153400	Weak transcription	Esophagus	oesophagus
11	chr1:59122400-59155200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:59122400-59159400	Weak transcription	Right Ventricle	heart
13	chr1:59123400-59153800	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:59123800-59161800	Strong transcription	Dnd41	blood
15	chr1:59124000-59156600	Weak transcription	Spleen	Spleen
16	chr1:59125000-59162200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:59125600-59161200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr1:59126200-59153400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:59129200-59161000	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr1:59131200-59161000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:59131200-59161000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:59137200-59155400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:59139400-59156200	Weak transcription	Psoas Muscle	Psoas
24	chr1:59139600-59162800	Weak transcription	Fetal Brain Male	brain
25	chr1:59139800-59156200	Weak transcription	Lung	lung
26	chr1:59139800-59159000	Weak transcription	Small Intestine	intestine
27	chr1:59139800-59162000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:59140200-59158800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:59140400-59157800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:59141200-59156200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:59141200-59158800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:59141600-59154600	Weak transcription	Hela-S3	cervix
33	chr1:59141800-59158600	Weak transcription	NHLF	lung
34	chr1:59143400-59154800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:59143600-59160600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:59144600-59161800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:59146600-59163200	Strong transcription	Osteobl	bone
38	chr1:59146800-59155800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:59147000-59153400	Strong transcription	NH-A	brain
40	chr1:59147200-59156400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:59148000-59153600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:59148000-59161000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:59148000-59164000	Weak transcription	A549	lung
44	chr1:59148200-59154800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:59148200-59155000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr1:59148200-59155000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:59148200-59155000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:59148200-59156000	Weak transcription	Brain Anterior Caudate	brain
49	chr1:59148200-59156200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:59148200-59157800	Weak transcription	Colonic Mucosa	Colon

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