Variant report

Variant	rs6003549
Chromosome Location	chr22:23538877-23538878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:23538154-23539567	K562	blood:	n/a	n/a
2	POLR2A	chr22:23538143-23541922	K562	blood:	n/a	n/a
3	SP2	chr22:23538261-23539220	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:23537450..23540017-chr22:23544428..23546912,2	MCF-7	breast:
2	chr22:23537013..23539168-chr22:23545643..23548469,2	MCF-7	breast:
3	chr22:23534323..23535865-chr22:23538315..23540375,2	MCF-7	breast:

Variant related genes	Relation type
BCR	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12157412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12157536	1.00[AMR][1000 genomes]
rs12157941	1.00[AMR][1000 genomes]
rs12158986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12159557	0.92[AFR][1000 genomes]
rs12159793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12160027	1.00[AMR][1000 genomes]
rs12160099	1.00[AMR][1000 genomes]
rs2330366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996469	1.00[AMR][1000 genomes]
rs5996472	1.00[AMR][1000 genomes]
rs5996477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5996484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003521	1.00[AMR][1000 genomes]
rs6003522	1.00[AMR][1000 genomes]
rs6003523	1.00[AMR][1000 genomes]
rs6003524	1.00[AMR][1000 genomes]
rs6003526	1.00[AMR][1000 genomes]
rs6003528	1.00[AMR][1000 genomes]
rs6003530	1.00[AMR][1000 genomes]
rs6003537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003540	1.00[AMR][1000 genomes]
rs6003541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003544	1.00[AFR][1000 genomes]
rs6003545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6003628	1.00[AMR][1000 genomes]
rs9620237	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats 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	100 gene(s)	inside rSNPs	diseases
3	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
16	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
17	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
18	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
20	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
22	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
23	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
24	nsv1058604	chr22:23497533-23545751	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	nsv588598	chr22:23530168-23638025	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23526000-23546000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:23526200-23546800	Weak transcription	Colonic Mucosa	Colon
3	chr22:23526400-23560800	Weak transcription	A549	lung
4	chr22:23527000-23541400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:23527000-23547200	Weak transcription	Fetal Kidney	kidney
6	chr22:23527200-23545400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr22:23527200-23547000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr22:23527400-23545400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr22:23527600-23541200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:23527600-23544200	Strong transcription	Fetal Intestine Small	intestine
11	chr22:23528400-23540600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr22:23529000-23542400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr22:23529600-23552800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr22:23530200-23545200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr22:23530400-23545600	Weak transcription	Liver	Liver
16	chr22:23530400-23558800	Weak transcription	Small Intestine	intestine
17	chr22:23530600-23545400	Weak transcription	Colon Smooth Muscle	Colon
18	chr22:23530600-23557200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr22:23530800-23539800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:23530800-23540000	Weak transcription	Ovary	ovary
21	chr22:23530800-23540600	Weak transcription	NH-A	brain
22	chr22:23530800-23540800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr22:23530800-23545200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr22:23530800-23545200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr22:23530800-23545600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr22:23533000-23539000	Weak transcription	Fetal Intestine Large	intestine
27	chr22:23533800-23540400	Weak transcription	HUVEC	blood vessel
28	chr22:23534000-23545400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr22:23534800-23541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr22:23534800-23541200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr22:23534800-23541200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:23534800-23541400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr22:23535000-23539600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr22:23535000-23540400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:23535000-23541800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr22:23535000-23556000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:23535200-23539800	Weak transcription	Spleen	Spleen
38	chr22:23535200-23540800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr22:23535200-23541200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr22:23535400-23543000	Weak transcription	Stomach Mucosa	stomach
41	chr22:23535600-23539000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr22:23535600-23539000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr22:23535600-23540400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr22:23535800-23559400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr22:23536000-23541400	Weak transcription	Brain Hippocampus Middle	brain
46	chr22:23536000-23543000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr22:23536000-23557200	Weak transcription	Hela-S3	cervix
48	chr22:23536200-23539600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr22:23536200-23540000	Weak transcription	Gastric	stomach
50	chr22:23536200-23541400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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