Variant report

Variant	rs4949899
Chromosome Location	chr1:85838237-85838238
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85836816..85838339-chr1:85838426..85841342,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1006989	0.85[EUR][1000 genomes]
rs10489510	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10747318	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10782549	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873701	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12022248	1.00[ASN][1000 genomes]
rs12029221	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12033483	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034249	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12035116	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12038426	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12042780	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12047189	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1261681	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1342323	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357635	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1357636	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1391556	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523995	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1608537	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17384213	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17388696	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1965876	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2016104	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2037594	0.85[EUR][1000 genomes]
rs2064510	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124139	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2124140	0.82[ASN][1000 genomes]
rs2300633	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2389948	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3851268	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4428939	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4512701	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4631749	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949889	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4949897	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4949898	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs499869	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs539714	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs600098	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs604974	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs631817	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6420965	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs659070	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6672870	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722663	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72722671	0.93[ASN][1000 genomes]
rs72722691	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72722692	0.94[AMR][1000 genomes]
rs72724608	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731194	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7515261	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7539738	0.85[EUR][1000 genomes]
rs7555670	0.86[EUR][1000 genomes]
rs990916	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85809200-85838400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:85814200-85839600	Weak transcription	Left Ventricle	heart
3	chr1:85816000-85839600	Weak transcription	Pancreas	Pancrea
4	chr1:85825000-85839000	Weak transcription	Aorta	Aorta
5	chr1:85826200-85838800	Weak transcription	Hela-S3	cervix
6	chr1:85827200-85839000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:85827400-85839400	Weak transcription	Fetal Intestine Large	intestine
8	chr1:85828000-85838800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:85829400-85838400	Weak transcription	Fetal Kidney	kidney
10	chr1:85829600-85839000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:85832800-85838400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:85832800-85838800	Weak transcription	HSMMtube	muscle
13	chr1:85832800-85839600	Weak transcription	HMEC	breast
14	chr1:85833000-85838400	Weak transcription	NHEK	skin
15	chr1:85833400-85839000	Weak transcription	NH-A	brain
16	chr1:85834200-85839000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:85834400-85839800	Weak transcription	Stomach Mucosa	stomach
18	chr1:85834600-85838400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:85834800-85838600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:85834800-85841600	Weak transcription	Fetal Intestine Small	intestine
21	chr1:85834800-85844200	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:85835800-85839800	Weak transcription	Right Ventricle	heart
23	chr1:85836000-85839000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:85836000-85839000	Weak transcription	Psoas Muscle	Psoas
25	chr1:85836000-85840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:85836200-85838800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:85836400-85838400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:85836400-85839000	Weak transcription	NHDF-Ad	bronchial
29	chr1:85836600-85840400	Enhancers	Liver	Liver
30	chr1:85836800-85838800	Enhancers	Adipose Nuclei	Adipose
31	chr1:85836800-85843000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:85837000-85838400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:85837000-85838400	Weak transcription	Small Intestine	intestine
34	chr1:85837000-85838800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:85837000-85839000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:85837000-85839800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr1:85837000-85840200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:85837200-85838400	Weak transcription	HUVEC	blood vessel
39	chr1:85837200-85839000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:85837200-85839400	Weak transcription	HepG2	liver
41	chr1:85837200-85842400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:85837400-85838400	Enhancers	A549	lung
43	chr1:85837400-85840400	Enhancers	HSMM	muscle
44	chr1:85837600-85838400	Weak transcription	Fetal Brain Female	brain
45	chr1:85837600-85839000	Weak transcription	Brain Anterior Caudate	brain
46	chr1:85837800-85838800	Enhancers	Osteobl	bone
47	chr1:85837800-85840000	Enhancers	Fetal Lung	lung
48	chr1:85837800-85840200	Enhancers	Fetal Stomach	stomach
49	chr1:85837800-85842200	Enhancers	Rectal Smooth Muscle	rectum
50	chr1:85838000-85839000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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