Variant report

Variant	rs10916108
Chromosome Location	chr1:227427493-227427494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227420905..227422807-chr1:227427077..227429097,2	K562	blood:
2	chr1:227425043..227428027-chr1:227428390..227430436,2	K562	blood:

Variant related genes	Relation type
ENSG00000228729	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10429872	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10495255	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10753433	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10799384	0.81[YRI][hapmap]
rs10799409	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10799410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10916106	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10916111	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10916118	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12035986	0.84[EUR][1000 genomes]
rs12044287	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12065126	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137591	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565871	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12566059	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12569227	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12742066	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1304324	0.81[YRI][hapmap]
rs1913344	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1929869	0.81[YRI][hapmap]
rs2102638	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34084723	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34875093	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35738984	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3795457	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4339829	0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4653797	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4653812	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60197034	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6656653	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6685106	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692294	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6697272	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6700730	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72759337	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7516326	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7519752	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7537038	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs955704	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227386200-227433400	Weak transcription	Fetal Stomach	stomach
2	chr1:227402400-227430600	Weak transcription	Pancreas	Pancrea
3	chr1:227407200-227432400	Weak transcription	Right Ventricle	heart
4	chr1:227411800-227430600	Weak transcription	Right Atrium	heart
5	chr1:227411800-227431400	Weak transcription	Fetal Intestine Small	intestine
6	chr1:227414000-227433200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:227414000-227459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:227414200-227433400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:227414200-227453800	Weak transcription	HSMM	muscle
10	chr1:227414400-227432400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:227414400-227432600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:227415800-227456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:227416200-227431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:227420800-227434600	Weak transcription	Spleen	Spleen
15	chr1:227422000-227430800	Weak transcription	Ovary	ovary
16	chr1:227422600-227430800	Weak transcription	Gastric	stomach
17	chr1:227423000-227432400	Weak transcription	Small Intestine	intestine
18	chr1:227423600-227428800	Weak transcription	Liver	Liver
19	chr1:227423600-227430600	Weak transcription	Brain Anterior Caudate	brain
20	chr1:227423600-227430800	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:227423600-227431400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:227423600-227432000	Weak transcription	Brain Substantia Nigra	brain
23	chr1:227424000-227428200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:227424000-227428200	Weak transcription	K562	blood
25	chr1:227424000-227430800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:227424600-227430800	Weak transcription	NHEK	skin
27	chr1:227424800-227430600	Weak transcription	Psoas Muscle	Psoas
28	chr1:227424800-227430800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:227424800-227432600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:227424800-227440800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:227425200-227432400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:227425400-227430600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr1:227425400-227430800	Weak transcription	HUVEC	blood vessel
34	chr1:227425400-227445200	Weak transcription	Osteobl	bone
35	chr1:227426000-227432400	Weak transcription	Left Ventricle	heart
36	chr1:227426200-227427600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:227426800-227427600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:227426800-227428400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr1:227427000-227432400	Weak transcription	Brain Angular Gyrus	brain
40	chr1:227427200-227428000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:227427200-227430600	Weak transcription	Adipose Nuclei	Adipose
42	chr1:227427200-227430600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:227427200-227430800	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:227427200-227433200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:227427400-227427800	Enhancers	A549	lung

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