Variant report

Variant	rs74101996
Chromosome Location	chr1:95509170-95509171
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:95318706..95321767-chr1:95507313..95510717,3	K562	blood:
2	chr1:95285703..95286399-chr1:95508712..95509642,4	MCF-7	breast:
3	chr1:95508625..95509695-chr1:95699228..95700102,5	K562	blood:
4	chr1:95319207..95320829-chr1:95507414..95509861,2	MCF-7	breast:
5	chr1:95285374..95286173-chr1:95508980..95509632,2	MCF-7	breast:
6	chr1:95508689..95509241-chr9:134615140..134616062,2	MCF-7	breast:
7	chr1:95271098..95272014-chr1:95508742..95509603,4	MCF-7	breast:
8	chr1:95319172..95320847-chr1:95508664..95509618,15	K562	blood:
9	chr1:95271063..95271580-chr1:95508693..95509648,2	K562	blood:
10	chr1:95319681..95320573-chr1:95508384..95509568,5	MCF-7	breast:
11	chr1:95319373..95320645-chr1:95508673..95509610,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237416	Chromatin interaction
ENSG00000107263	Chromatin interaction
ENSG00000226026	Chromatin interaction
ENSG00000224081	Chromatin interaction
ENSG00000143036	Chromatin interaction
ENSG00000122481	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs41292697	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56032536	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56204307	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs57040913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093304	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57122039	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57213707	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57950891	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59130528	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59338711	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59569067	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60405904	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60491236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60549805	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60555923	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60757816	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61488063	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61772226	0.94[AFR][1000 genomes]
rs61774271	0.94[AFR][1000 genomes]
rs74101957	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs74101958	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74101961	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74101968	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74101972	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74101979	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74102002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103606	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103607	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103608	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103627	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103628	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103629	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103634	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103644	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74103651	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs74103654	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3402740	chr1:95500980-95527860	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95488200-95537600	Weak transcription	Right Ventricle	heart
2	chr1:95489400-95517200	Weak transcription	Aorta	Aorta
3	chr1:95491600-95529600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:95502000-95512200	Weak transcription	GM12878-XiMat	blood
5	chr1:95505600-95537400	Weak transcription	Right Atrium	heart
6	chr1:95505800-95509600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:95506000-95517000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:95506000-95537800	Weak transcription	Pancreas	Pancrea
9	chr1:95506600-95527800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:95506800-95509400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:95507000-95509200	Enhancers	Fetal Lung	lung
12	chr1:95507000-95509400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:95507000-95509400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:95507000-95509400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:95507600-95509200	Enhancers	Fetal Heart	heart
16	chr1:95507800-95509400	Enhancers	Brain Hippocampus Middle	brain
17	chr1:95508000-95509400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:95508000-95509800	Enhancers	A549	lung
19	chr1:95508000-95513600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:95508200-95509200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:95508200-95509200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:95508200-95509200	Enhancers	Adipose Nuclei	Adipose
23	chr1:95508200-95509400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr1:95508200-95510200	Enhancers	NHLF	lung
25	chr1:95508400-95509200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:95508400-95509600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:95508600-95509600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:95508800-95509200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:95508800-95509200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:95508800-95509200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr1:95508800-95509200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:95508800-95509200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:95508800-95509200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:95508800-95509200	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr1:95508800-95509200	Enhancers	Dnd41	blood
36	chr1:95508800-95509200	Enhancers	HUVEC	blood vessel
37	chr1:95508800-95509400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr1:95508800-95509400	Enhancers	Fetal Intestine Small	intestine
39	chr1:95508800-95509600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:95508800-95509600	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:95508800-95509800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:95508800-95510000	Enhancers	Liver	Liver
43	chr1:95509000-95509200	Active TSS	Brain Angular Gyrus	brain
44	chr1:95509000-95509200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr1:95509000-95509400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:95509000-95509600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:95509000-95509600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:95509000-95509600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:95509000-95510600	Weak transcription	Ovary	ovary
50	chr1:95509000-95510800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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