Variant report

Variant	rs784368
Chromosome Location	chr1:211556670-211556671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211499136..211502907-chr1:211554932..211557555,4	K562	blood:
2	chr1:211555901..211556720-chr8:37962753..37963521,2	Hela-S3	cervix:
3	chr1:211556274..211556905-chr10:99894147..99894855,2	Hela-S3	cervix:
4	chr1:211555896..211556746-chr15:23034284..23034846,2	Hela-S3	cervix:
5	chr1:211555829..211556746-chr9:127631369..127631980,2	Hela-S3	cervix:
6	chr1:211556567..211557072-chr15:65596802..65597429,2	Hela-S3	cervix:
7	chr1:211556226..211556733-chr11:64073207..64073802,2	Hela-S3	cervix:
8	chr1:211430859..211434419-chr1:211555069..211558654,5	K562	blood:
9	chr1:45187049..45187595-chr1:211556365..211556890,2	Hela-S3	cervix:
10	chr1:211540485..211542540-chr1:211554956..211557564,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173153	Chromatin interaction
ENSG00000140157	Chromatin interaction
ENSG00000117625	Chromatin interaction
ENSG00000166024	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000129691	Chromatin interaction
ENSG00000136950	Chromatin interaction
ENSG00000082512	Chromatin interaction
ENSG00000200156	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10732682	0.88[EUR][1000 genomes]
rs10779554	0.88[EUR][1000 genomes]
rs1084982	0.88[EUR][1000 genomes]
rs1084983	0.92[EUR][1000 genomes]
rs1084986	0.85[EUR][1000 genomes]
rs10863886	0.88[EUR][1000 genomes]
rs10863887	0.88[EUR][1000 genomes]
rs11804635	0.88[EUR][1000 genomes]
rs1533219	0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1533220	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1663521	0.96[EUR][1000 genomes]
rs1707247	0.96[EUR][1000 genomes]
rs1707252	0.96[EUR][1000 genomes]
rs1707266	0.96[EUR][1000 genomes]
rs1707267	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1877476	0.92[EUR][1000 genomes]
rs1983259	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1983260	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2358215	0.92[EUR][1000 genomes]
rs2588658	0.88[EUR][1000 genomes]
rs2995846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3123302	0.92[EUR][1000 genomes]
rs3125840	0.81[EUR][1000 genomes]
rs3855878	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4347268	0.88[EUR][1000 genomes]
rs4370817	0.88[EUR][1000 genomes]
rs4556425	0.88[EUR][1000 genomes]
rs4951517	0.88[EUR][1000 genomes]
rs4951735	0.88[EUR][1000 genomes]
rs4951737	0.88[EUR][1000 genomes]
rs4951738	0.92[EUR][1000 genomes]
rs4951739	0.88[EUR][1000 genomes]
rs4951740	0.92[EUR][1000 genomes]
rs6540675	0.88[EUR][1000 genomes]
rs6540676	0.88[EUR][1000 genomes]
rs6540678	0.88[EUR][1000 genomes]
rs6657779	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6663627	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6671526	0.88[EUR][1000 genomes]
rs6672233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6688682	0.88[EUR][1000 genomes]
rs6692815	0.88[EUR][1000 genomes]
rs73072839	0.88[EUR][1000 genomes]
rs7517135	0.88[EUR][1000 genomes]
rs7527620	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7529964	0.81[EUR][1000 genomes]
rs784366	0.89[EUR][1000 genomes]
rs784367	1.00[EUR][1000 genomes]
rs784370	0.96[EUR][1000 genomes]
rs784371	0.92[EUR][1000 genomes]
rs784373	1.00[EUR][1000 genomes]
rs784374	0.92[EUR][1000 genomes]
rs784375	0.92[EUR][1000 genomes]
rs784377	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs784378	0.96[EUR][1000 genomes]
rs784380	0.96[EUR][1000 genomes]
rs784381	0.96[EUR][1000 genomes]
rs784387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs784388	0.92[EUR][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	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211555000-211557000	Active TSS	Psoas Muscle	Psoas
2	chr1:211555000-211557400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:211555200-211556800	Active TSS	Duodenum Mucosa	Duodenum
4	chr1:211555200-211557200	Active TSS	K562	blood
5	chr1:211555400-211556800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:211555400-211556800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:211555400-211556800	Active TSS	Aorta	Aorta
8	chr1:211555400-211556800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:211555400-211556800	Active TSS	Fetal Kidney	kidney
10	chr1:211555400-211556800	Active TSS	Fetal Lung	lung
11	chr1:211555400-211556800	Active TSS	Fetal Stomach	stomach
12	chr1:211555400-211557000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr1:211555400-211557000	Active TSS	Fetal Brain Female	brain
14	chr1:211555400-211557000	Active TSS	Fetal Muscle Leg	muscle
15	chr1:211555400-211557000	Active TSS	Right Ventricle	heart
16	chr1:211555400-211557200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:211555400-211557200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:211555600-211556800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr1:211555600-211556800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:211555600-211556800	Active TSS	Colonic Mucosa	Colon
21	chr1:211555600-211556800	Active TSS	Fetal Intestine Large	intestine
22	chr1:211555600-211556800	Active TSS	Fetal Intestine Small	intestine
23	chr1:211555600-211556800	Active TSS	Stomach Smooth Muscle	stomach
24	chr1:211555600-211556800	Active TSS	NHDF-Ad	bronchial
25	chr1:211555600-211557000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr1:211555600-211557000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:211555600-211557000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:211555600-211557000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr1:211555600-211557000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:211555600-211557000	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr1:211555600-211557000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:211555600-211557000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:211555600-211557000	Active TSS	Brain Cingulate Gyrus	brain
34	chr1:211555600-211557000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr1:211555600-211557000	Active TSS	Fetal Brain Male	brain
36	chr1:211555600-211557000	Active TSS	Fetal Muscle Trunk	muscle
37	chr1:211555600-211557000	Active TSS	Ovary	ovary
38	chr1:211555600-211557000	Active TSS	A549	lung
39	chr1:211555600-211557200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:211555600-211557200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:211555600-211557200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:211555600-211557200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:211555600-211557400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:211555800-211556800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:211555800-211556800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:211555800-211556800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:211555800-211556800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:211555800-211556800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:211555800-211556800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr1:211555800-211556800	Active TSS	HUES64 Cell Line	embryonic stem cell

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