Variant report

Variant	rs2206764
Chromosome Location	chr1:59150941-59150942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59149640..59151406-chr1:59161321..59163317,2	K562	blood:
2	chr1:59149494..59151005-chr1:59152477..59155312,2	MCF-7	breast:
3	chr1:59140685..59142827-chr1:59150748..59153079,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11207300	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11582157	0.87[ASN][1000 genomes]
rs11588089	0.84[ASN][1000 genomes]
rs15307	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17264915	0.87[ASN][1000 genomes]
rs2064373	0.84[ASN][1000 genomes]
rs232778	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs232779	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs232783	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232788	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232790	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232857	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232862	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232863	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232867	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232877	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232880	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232886	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232901	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232902	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232904	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232905	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs232906	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs232907	0.89[ASN][1000 genomes]
rs232908	0.89[ASN][1000 genomes]
rs232910	0.86[ASN][1000 genomes]
rs232911	0.86[ASN][1000 genomes]
rs2746077	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2746083	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4912369	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4912372	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs513436	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs542750	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6661922	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs675871	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs688225	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72678808	0.84[ASN][1000 genomes]
rs72678814	0.84[ASN][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59116000-59151600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:59118200-59163400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:59119800-59155000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:59119800-59162200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:59119800-59163200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:59120000-59153400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:59121000-59161200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:59121400-59161000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:59121600-59161200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:59121600-59161200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:59122200-59153400	Weak transcription	Esophagus	oesophagus
12	chr1:59122400-59153200	Weak transcription	Gastric	stomach
13	chr1:59122400-59153200	Weak transcription	Pancreas	Pancrea
14	chr1:59122400-59155200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:59122400-59159400	Weak transcription	Right Ventricle	heart
16	chr1:59123400-59153800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:59123800-59161800	Strong transcription	Dnd41	blood
18	chr1:59124000-59156600	Weak transcription	Spleen	Spleen
19	chr1:59125000-59162200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:59125600-59161200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr1:59126200-59153400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:59129200-59161000	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr1:59131200-59161000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:59131200-59161000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:59131600-59153200	Weak transcription	Aorta	Aorta
26	chr1:59135600-59152000	Strong transcription	Placenta	Placenta
27	chr1:59136800-59152200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:59137000-59151200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr1:59137200-59155400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:59138800-59151400	Weak transcription	Ovary	ovary
31	chr1:59139400-59151400	Weak transcription	Brain Angular Gyrus	brain
32	chr1:59139400-59156200	Weak transcription	Psoas Muscle	Psoas
33	chr1:59139600-59151200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:59139600-59162800	Weak transcription	Fetal Brain Male	brain
35	chr1:59139800-59156200	Weak transcription	Lung	lung
36	chr1:59139800-59159000	Weak transcription	Small Intestine	intestine
37	chr1:59139800-59162000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:59140200-59158800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:59140400-59157800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr1:59140600-59151600	Weak transcription	Fetal Intestine Small	intestine
41	chr1:59141200-59156200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:59141200-59158800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:59141400-59151400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:59141400-59151400	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:59141600-59154600	Weak transcription	Hela-S3	cervix
46	chr1:59141800-59158600	Weak transcription	NHLF	lung
47	chr1:59142000-59151600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:59143400-59154800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:59143600-59160600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:59144000-59152400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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