Variant report

Variant	rs1223244
Chromosome Location	chr1:226080674-226080675
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	chr1:226080382..226082754-chr1:226132657..226134532,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs168617	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs360060	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs360076	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs360093	0.82[EUR][1000 genomes]
rs360094	0.82[EUR][1000 genomes]
rs360097	0.82[EUR][1000 genomes]
rs360098	0.82[AMR][1000 genomes]
rs360099	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs360100	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS 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
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv3335650	chr1:226074720-226125458	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	esv3369235	chr1:226075748-226127738	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv468216	chr1:226078915-226135132	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv549267	chr1:226078915-226135132	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226071000-226083600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:226072000-226081200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:226072000-226081600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:226072000-226082000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:226076800-226084600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:226077000-226085200	Weak transcription	Spleen	Spleen
7	chr1:226077000-226099000	Weak transcription	Right Atrium	heart
8	chr1:226077400-226084600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:226078600-226084000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:226078800-226084200	Weak transcription	A549	lung
11	chr1:226078800-226084800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:226078800-226086800	Weak transcription	Fetal Stomach	stomach
13	chr1:226079000-226081400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:226079000-226084400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:226079000-226084600	Weak transcription	Colonic Mucosa	Colon
16	chr1:226079000-226084800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:226079200-226082000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:226079200-226082000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:226079200-226083600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:226079200-226084400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:226079200-226084600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:226079200-226085000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:226079200-226085800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:226079400-226081600	Weak transcription	Primary T cells from cord blood	blood
25	chr1:226079400-226081600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:226079600-226082400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:226079600-226084200	Weak transcription	K562	blood
28	chr1:226079600-226084400	Weak transcription	NHEK	skin
29	chr1:226079600-226084600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:226079600-226084600	Weak transcription	Fetal Intestine Large	intestine
31	chr1:226079800-226083600	Weak transcription	Gastric	stomach
32	chr1:226079800-226083800	Weak transcription	Liver	Liver
33	chr1:226079800-226083800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:226079800-226084200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:226079800-226084200	Weak transcription	HepG2	liver
36	chr1:226079800-226084400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:226079800-226084400	Weak transcription	HMEC	breast
38	chr1:226079800-226084600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:226079800-226084600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:226079800-226084600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:226079800-226084600	Weak transcription	Hela-S3	cervix
42	chr1:226079800-226084800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:226079800-226085000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:226080400-226083600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:226080400-226083600	Weak transcription	Pancreas	Pancrea
46	chr1:226080400-226083600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr1:226080400-226083600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:226080400-226084200	Weak transcription	Stomach Mucosa	stomach

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