Variant report

Variant	rs11803995
Chromosome Location	chr1:10094313-10094314
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10002061..10004916-chr1:10091716..10094596,6	MCF-7	breast:
2	chr1:9969329..9971047-chr1:10093028..10095066,2	K562	blood:
3	chr1:9970314..9973220-chr1:10093612..10095585,2	K562	blood:
4	chr1:10002125..10006916-chr1:10090169..10095056,10	K562	blood:
5	chr1:10001502..10006445-chr1:10090966..10096976,9	MCF-7	breast:
6	chr1:10001294..10005828-chr1:10093316..10096471,4	K562	blood:
7	chr1:10093957..10096871-chr1:10101261..10104242,3	K562	blood:
8	chr1:9929452..9932865-chr1:10092666..10095157,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173614	Chromatin interaction
ENSG00000228150	Chromatin interaction
ENSG00000178585	Chromatin interaction
ENSG00000162441	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11801988	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11804755	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11808311	1.00[EUR][1000 genomes]
rs17034554	1.00[GIH][hapmap]
rs17034560	0.83[TSI][hapmap]
rs2295294	0.83[YRI][hapmap]
rs28671063	1.00[EUR][1000 genomes]
rs41280788	1.00[EUR][1000 genomes]
rs56682893	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56760324	1.00[EUR][1000 genomes]
rs57216908	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58453167	0.84[EUR][1000 genomes]
rs61134758	0.94[EUR][1000 genomes]
rs61462323	1.00[EUR][1000 genomes]
rs6659436	0.83[TSI][hapmap]
rs6676768	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6678222	1.00[GIH][hapmap]
rs6693686	1.00[EUR][1000 genomes]
rs6701103	1.00[EUR][1000 genomes]
rs72859590	1.00[EUR][1000 genomes]
rs72861431	1.00[EUR][1000 genomes]
rs72861447	1.00[EUR][1000 genomes]
rs72861453	1.00[EUR][1000 genomes]
rs7538285	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs9661116	1.00[EUR][1000 genomes]
rs9661131	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10091600-10094400	Active TSS	A549	lung
2	chr1:10092200-10094600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:10092200-10094600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:10092200-10094800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:10092200-10094800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:10092200-10095600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:10092200-10096200	Active TSS	K562	blood
8	chr1:10092400-10094400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:10092400-10094400	Active TSS	Brain Angular Gyrus	brain
10	chr1:10092400-10094400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr1:10092400-10094600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:10092400-10094600	Active TSS	Colonic Mucosa	Colon
13	chr1:10092400-10094600	Active TSS	Fetal Brain Female	brain
14	chr1:10092400-10094600	Active TSS	Fetal Intestine Large	intestine
15	chr1:10092400-10094600	Active TSS	Thymus	Thymus
16	chr1:10092400-10094600	Active TSS	NHDF-Ad	bronchial
17	chr1:10092400-10094800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr1:10092400-10094800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:10092400-10094800	Active TSS	Fetal Kidney	kidney
20	chr1:10092400-10094800	Active TSS	Psoas Muscle	Psoas
21	chr1:10092400-10094800	Active TSS	Right Ventricle	heart
22	chr1:10092400-10095000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr1:10092400-10095000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:10092400-10095000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:10092400-10095000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr1:10092400-10095000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:10092400-10095000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:10092400-10095000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:10092400-10095000	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:10092400-10095000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr1:10092400-10095000	Active TSS	Left Ventricle	heart
32	chr1:10092400-10095000	Active TSS	Ovary	ovary
33	chr1:10092400-10095000	Active TSS	Right Atrium	heart
34	chr1:10092400-10095400	Active TSS	Aorta	Aorta
35	chr1:10092400-10096200	Active TSS	HMEC	breast
36	chr1:10092600-10094400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:10092600-10094400	Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:10092600-10094400	Active TSS	HSMMtube	muscle
39	chr1:10092600-10094600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:10092600-10094600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:10092600-10094600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:10092600-10094600	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr1:10092600-10094600	Active TSS	Fetal Intestine Small	intestine
44	chr1:10092600-10094600	Active TSS	Fetal Muscle Leg	muscle
45	chr1:10092600-10094600	Active TSS	Fetal Stomach	stomach
46	chr1:10092600-10094600	Active TSS	NHEK	skin
47	chr1:10092600-10095000	Active TSS	Fetal Thymus	thymus
48	chr1:10092600-10095400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:10092600-10096200	Active TSS	Hela-S3	cervix
50	chr1:10092800-10094800	Active TSS	Placenta Amnion	Placenta Amnion

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