Variant report

Variant	rs11809053
Chromosome Location	chr1:85839387-85839388
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85839312..85843099-chr1:85847023..85851233,3	K562	blood:
2	chr1:85832497..85835404-chr1:85838453..85841129,2	K562	blood:
3	chr1:85839315..85841036-chr1:85844742..85846261,2	K562	blood:
4	chr1:85836816..85838339-chr1:85838426..85841342,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10489509	1.00[AMR][1000 genomes]
rs10489512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10873699	1.00[AMR][1000 genomes]
rs11161596	1.00[AMR][1000 genomes]
rs11799987	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11802126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805144	1.00[AMR][1000 genomes]
rs11805470	1.00[AMR][1000 genomes]
rs11806483	1.00[AMR][1000 genomes]
rs11807361	1.00[AFR][1000 genomes]
rs11811186	1.00[AMR][1000 genomes]
rs12059670	1.00[AMR][1000 genomes]
rs12071648	1.00[AMR][1000 genomes]
rs12082194	1.00[AMR][1000 genomes]
rs17126044	1.00[AMR][1000 genomes]
rs17126791	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs182845	1.00[AMR][1000 genomes]
rs20862	1.00[AMR][1000 genomes]
rs233063	1.00[AMR][1000 genomes]
rs233064	1.00[AMR][1000 genomes]
rs233122	1.00[AMR][1000 genomes]
rs233126	1.00[AMR][1000 genomes]
rs233129	1.00[AMR][1000 genomes]
rs2474121	1.00[AMR][1000 genomes]
rs41438644	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4399206	1.00[AMR][1000 genomes]
rs57053091	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57527592	1.00[AMR][1000 genomes]
rs57769466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60176254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60202981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61473029	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
2	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
3	chr1:85827400-85839400	Weak transcription	Fetal Intestine Large	intestine
4	chr1:85832800-85839600	Weak transcription	HMEC	breast
5	chr1:85834400-85839800	Weak transcription	Stomach Mucosa	stomach
6	chr1:85834800-85841600	Weak transcription	Fetal Intestine Small	intestine
7	chr1:85834800-85844200	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:85835800-85839800	Weak transcription	Right Ventricle	heart
9	chr1:85836000-85840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:85836600-85840400	Enhancers	Liver	Liver
11	chr1:85836800-85843000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:85837000-85839800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:85837000-85840200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:85837200-85839400	Weak transcription	HepG2	liver
15	chr1:85837200-85842400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:85837400-85840400	Enhancers	HSMM	muscle
17	chr1:85837800-85840000	Enhancers	Fetal Lung	lung
18	chr1:85837800-85840200	Enhancers	Fetal Stomach	stomach
19	chr1:85837800-85842200	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:85838000-85840200	Enhancers	NHLF	lung
21	chr1:85838200-85842800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:85838400-85839400	Enhancers	Small Intestine	intestine
23	chr1:85838400-85839800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:85838400-85840000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:85838400-85840000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:85838400-85840000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:85838400-85840400	Enhancers	NHEK	skin
28	chr1:85838400-85840800	Enhancers	Fetal Kidney	kidney
29	chr1:85838400-85842800	Enhancers	HUVEC	blood vessel
30	chr1:85838600-85839400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:85838600-85840000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:85838600-85843400	Weak transcription	Fetal Brain Female	brain
33	chr1:85838800-85839400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:85838800-85839400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:85838800-85839400	Weak transcription	Osteobl	bone
36	chr1:85838800-85839800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:85838800-85840000	Enhancers	Hela-S3	cervix
38	chr1:85838800-85840200	Enhancers	HSMMtube	muscle
39	chr1:85838800-85842600	Enhancers	Colon Smooth Muscle	Colon
40	chr1:85839000-85839400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:85839000-85839400	Bivalent Enhancer	Fetal Brain Male	brain
42	chr1:85839000-85839600	Enhancers	A549	lung
43	chr1:85839000-85839800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:85839000-85839800	Enhancers	Aorta	Aorta
45	chr1:85839000-85840000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:85839000-85840000	Enhancers	Ovary	ovary
47	chr1:85839000-85840200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:85839000-85840200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr1:85839000-85840400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:85839000-85840400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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