Variant report

Variant	rs11211323
Chromosome Location	chr1:47071408-47071409
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:47071302-47071622	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47069390..47072755-chr1:47079314..47082367,4	MCF-7	breast:
2	chr1:47041661..47043778-chr1:47070091..47072496,2	K562	blood:
3	chr1:47068429..47072503-chr1:47081068..47085092,4	MCF-7	breast:
4	chr1:47069986..47078443-chr1:47078833..47084050,15	K562	blood:
5	chr1:47066512..47069474-chr1:47070954..47073416,4	K562	blood:
6	chr1:47069954..47072526-chr1:47696601..47699407,3	K562	blood:

No data

Variant related genes	Relation type
MKNK1	TF binding region
ENSG00000079277	Chromatin interaction
ENSG00000142961	Chromatin interaction
ENSG00000162367	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10890406	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10890407	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10890408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11211319	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211320	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211324	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11211325	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11211326	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11211327	0.87[EUR][1000 genomes]
rs12022855	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136479	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1258012	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35494693	0.87[EUR][1000 genomes]
rs36058295	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4660357	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4660947	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6671527	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6687832	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6704020	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7526249	0.99[EUR][1000 genomes]
rs7526328	0.98[EUR][1000 genomes]
rs942083	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs956526	0.97[EUR][1000 genomes]
rs956527	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47070000-47077600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:47070000-47078800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:47070200-47073200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:47070400-47072000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:47070400-47073600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:47070400-47073600	Weak transcription	Brain Substantia Nigra	brain
7	chr1:47070400-47073800	Weak transcription	Brain Germinal Matrix	brain
8	chr1:47070400-47081200	Weak transcription	Fetal Brain Male	brain
9	chr1:47070600-47071600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr1:47070600-47071600	Weak transcription	Fetal Stomach	stomach
11	chr1:47070600-47071800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:47070600-47072000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:47070600-47072000	Weak transcription	Osteobl	bone
14	chr1:47070600-47072200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:47070600-47072200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:47070600-47072600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:47070600-47073200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:47070600-47073200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:47070600-47073200	Weak transcription	Aorta	Aorta
20	chr1:47070600-47073200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:47070600-47073200	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:47070600-47073400	Weak transcription	Fetal Intestine Large	intestine
23	chr1:47070600-47073600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:47070600-47073600	Weak transcription	Esophagus	oesophagus
25	chr1:47070600-47073600	Weak transcription	Gastric	stomach
26	chr1:47070600-47073800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:47070600-47073800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr1:47070600-47073800	Weak transcription	Fetal Lung	lung
29	chr1:47070600-47073800	Enhancers	Psoas Muscle	Psoas
30	chr1:47070600-47074000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:47070600-47074000	Weak transcription	Fetal Kidney	kidney
32	chr1:47070600-47074600	Weak transcription	HSMM	muscle
33	chr1:47070600-47077200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:47070600-47077400	Weak transcription	NH-A	brain
35	chr1:47070600-47077600	Weak transcription	Fetal Heart	heart
36	chr1:47070600-47078400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:47070800-47071600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr1:47070800-47071800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:47070800-47071800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:47070800-47072000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:47070800-47072000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:47070800-47072000	Weak transcription	Fetal Intestine Small	intestine
43	chr1:47070800-47072200	Enhancers	Primary T cells from cord blood	blood
44	chr1:47070800-47072200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr1:47070800-47072400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:47070800-47073000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:47070800-47073400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr1:47070800-47073400	Weak transcription	Colonic Mucosa	Colon
49	chr1:47070800-47073400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:47070800-47073400	Enhancers	NHEK	skin

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