Variant report

Variant	rs4847221
Chromosome Location	chr1:93269824-93269825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93256428..93259014-chr1:93269209..93271869,2	K562	blood:
2	chr1:93268492..93270961-chr1:93296445..93298325,2	K562	blood:
3	chr1:93268938..93271046-chr1:93276676..93278269,2	K562	blood:

Variant related genes	Relation type
ENSG00000067208	Chromatin interaction
ENSG00000122406	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10218670	0.89[CEU][hapmap]
rs10493863	0.83[CHD][hapmap]
rs10735782	0.89[CEU][hapmap]
rs10747448	0.89[CEU][hapmap]
rs10747449	0.88[CEU][hapmap]
rs10747450	0.89[CEU][hapmap]
rs10782940	0.89[CEU][hapmap]
rs10782944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10782945	0.92[CHD][hapmap]
rs10782946	0.92[CHD][hapmap]
rs10874728	0.89[CEU][hapmap]
rs10874729	0.89[CEU][hapmap]
rs10874731	0.89[CEU][hapmap]
rs10874742	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10874744	0.83[CHD][hapmap]
rs10874746	0.92[CHD][hapmap]
rs11164804	0.89[CEU][hapmap]
rs11164808	0.89[CEU][hapmap]
rs11164812	0.81[EUR][1000 genomes]
rs11164813	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs11164821	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11164835	0.83[CHD][hapmap]
rs11164845	1.00[CHB][hapmap]
rs12029026	0.81[ASN][1000 genomes]
rs1337109	0.89[CEU][hapmap]
rs1360366	0.85[CHD][hapmap]
rs1411706	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1415294	0.89[CEU][hapmap]
rs1467559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538029	0.89[CEU][hapmap]
rs1556564	0.89[CEU][hapmap]
rs1556565	0.89[CEU][hapmap]
rs1610319	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1929138	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1932966	0.89[CEU][hapmap]
rs1977225	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1977226	0.83[AFR][1000 genomes]
rs1977227	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977228	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1977229	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2025100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2050597	0.89[CEU][hapmap]
rs2065916	0.89[CEU][hapmap]
rs2095268	0.88[CEU][hapmap]
rs2107520	0.89[CEU][hapmap]
rs2107521	0.89[CEU][hapmap]
rs2158446	0.88[CEU][hapmap]
rs2244005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2244496	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2391179	0.93[EUR][1000 genomes]
rs2391193	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2391196	0.88[CEU][hapmap]
rs2391199	0.89[CEU][hapmap]
rs2391200	0.86[CEU][hapmap]
rs2774940	0.85[ASN][1000 genomes]
rs2774941	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap]
rs2774943	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2811599	1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[EUR][1000 genomes]
rs2811602	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2989014	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35054144	0.89[CEU][hapmap]
rs3790445	0.89[CEU][hapmap]
rs3790446	0.89[CEU][hapmap]
rs4240962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4847222	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4847247	0.89[CEU][hapmap]
rs4847266	0.88[CEU][hapmap]
rs4847363	0.89[CEU][hapmap]
rs4847370	0.89[CEU][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes]
rs6603999	0.89[CEU][hapmap]
rs6604003	0.89[CEU][hapmap]
rs6604010	0.89[CEU][hapmap]
rs6604015	0.89[CEU][hapmap]
rs6604018	0.89[CEU][hapmap]
rs6604025	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6659942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6661600	0.89[CEU][hapmap]
rs6671421	0.89[CEU][hapmap]
rs6685705	0.89[CEU][hapmap]
rs6687994	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6693371	0.81[EUR][1000 genomes]
rs6696636	0.89[CEU][hapmap]
rs6701130	0.89[CEU][hapmap]
rs6703467	0.89[CEU][hapmap]
rs7416169	0.89[CEU][hapmap]
rs7513624	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7513815	0.89[CEU][hapmap]
rs7514716	0.89[CEU][hapmap]
rs7515257	0.83[CHD][hapmap]
rs7516141	0.89[CEU][hapmap]
rs7526582	0.89[CEU][hapmap]
rs7527343	0.84[EUR][1000 genomes]
rs7527356	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7529332	0.89[CEU][hapmap]
rs7529630	0.89[CEU][hapmap]
rs7532731	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7536563	0.92[CHD][hapmap]
rs7540407	0.89[CEU][hapmap]
rs7541829	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7543077	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7543112	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7543327	0.89[CEU][hapmap]
rs7543964	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7549844	0.88[CEU][hapmap]
rs7551340	0.85[ASN][1000 genomes]
rs7551880	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs927339	0.89[CEU][hapmap]
rs932637	0.89[CEU][hapmap]
rs9439920	0.89[CEU][hapmap]
rs9439924	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs945724	0.89[CEU][hapmap]
rs9651257	0.83[CHD][hapmap]
rs9662515	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs976208	0.89[CEU][hapmap]

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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv947289	chr1:93251307-93276080	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93258000-93270200	Weak transcription	Right Atrium	heart
2	chr1:93261200-93270200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:93261600-93270000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:93263800-93270600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:93268600-93271000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:93268800-93271200	Enhancers	HUVEC	blood vessel
7	chr1:93268800-93272200	Enhancers	Placenta	Placenta
8	chr1:93269000-93270000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:93269000-93270000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:93269000-93270200	Weak transcription	HepG2	liver
11	chr1:93269400-93271000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:93269600-93271400	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr1:93269800-93270200	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:93269800-93270200	Enhancers	Duodenum Mucosa	Duodenum
15	chr1:93269800-93271000	Enhancers	NH-A	brain
16	chr1:93269800-93271200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:93269800-93271200	Enhancers	Fetal Heart	heart
18	chr1:93269800-93271200	Enhancers	Fetal Intestine Large	intestine
19	chr1:93269800-93271400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:93269800-93271400	Enhancers	Stomach Mucosa	stomach
21	chr1:93269800-93271800	Enhancers	Hela-S3	cervix
22	chr1:93269800-93271800	Enhancers	K562	blood
23	chr1:93269800-93271800	Enhancers	NHEK	skin
24	chr1:93269800-93272200	Enhancers	Osteobl	bone
25	chr1:93269800-93272400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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