Variant report

Variant	rs60836642
Chromosome Location	chr22:30645368-30645369
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	EGR1	chr22:30645109-30645380	K562	blood:	n/a	chr22:30645260-30645273
2	POLR2A	chr22:30642907-30646562	HCT-116	colon:	n/a	n/a
3	NFIC	chr22:30645042-30645577	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr22:30645213-30645458	A549	lung:	n/a	n/a
5	MAZ	chr22:30645283-30645386	K562	blood:	n/a	n/a
6	POLR2A	chr22:30645300-30650267	IMR90	lung:	n/a	n/a
7	POLR2A	chr22:30634332-30646592	PANC-1	pancreas:	n/a	n/a
8	CEBPB	chr22:30645321-30645452	A549	lung:	n/a	n/a
9	JUND	chr22:30644910-30645506	A549	lung:	n/a	n/a
10	POLR2A	chr22:30643828-30645616	A549	lung:	n/a	n/a
11	POLR2A	chr22:30645144-30645468	ECC-1	luminal epithelium:	n/a	n/a
12	MAZ	chr22:30644457-30650761	IMR90	lung:	n/a	chr22:30646776-30646786 chr22:30646530-30646540 chr22:30644558-30644569 chr22:30649241-30649251
13	MAX	chr22:30645316-30646016	ECC-1	luminal epithelium:	n/a	n/a
14	MAX	chr22:30644885-30645824	A549	lung:	n/a	n/a
15	ZBTB7A	chr22:30645194-30645507	K562	blood:	n/a	n/a
16	MAX	chr22:30643129-30645971	A549	lung:	n/a	chr22:30644558-30644569
17	POLR2A	chr22:30633461-30651267	A549	lung:	n/a	n/a
18	MYC	chr22:30645099-30645483	MCF-7	breast:	n/a	n/a
19	POLR2A	chr22:30640309-30646586	PANC-1	pancreas:	n/a	n/a
20	MAZ	chr22:30645219-30645372	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr22:30639359-30648158	MCF-7	breast:	n/a	n/a
22	TCF12	chr22:30645149-30645728	A549	lung:	n/a	chr22:30645414-30645424
23	ZBTB7A	chr22:30645043-30645693	ECC-1	luminal epithelium:	n/a	n/a
24	NR2F2	chr22:30645077-30645643	MCF-7	breast:	n/a	n/a
25	TCF12	chr22:30645038-30645665	ECC-1	luminal epithelium:	n/a	chr22:30645414-30645424
26	POLR2A	chr22:30644929-30645639	A549	lung:	n/a	n/a
27	POLR2A	chr22:30634469-30646541	HCT-116	colon:	n/a	n/a
28	ZBTB7A	chr22:30645253-30645446	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30578823..30581368-chr22:30643689..30645542,2	MCF-7	breast:
2	chr22:30500122..30506829-chr22:30640771..30648697,14	MCF-7	breast:
3	chr13:38448816..38451561-chr22:30643041..30645856,2	MCF-7	breast:
4	chr22:30644640..30647601-chr22:30649599..30653235,3	K562	blood:

Variant related genes	Relation type
LIF	TF binding region
ENSG00000226573	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12166309	1.00[EUR][1000 genomes]
rs12169153	1.00[EUR][1000 genomes]
rs16988421	1.00[EUR][1000 genomes]
rs16988425	1.00[EUR][1000 genomes]
rs56897799	1.00[EUR][1000 genomes]
rs5997599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6006413	1.00[EUR][1000 genomes]
rs6006417	1.00[EUR][1000 genomes]
rs61732271	1.00[EUR][1000 genomes]
rs7286437	1.00[EUR][1000 genomes]
rs7291157	1.00[EUR][1000 genomes]
rs73404556	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883356	1.00[EUR][1000 genomes]
rs8142884	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9620975	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30634000-30646800	Genic enhancers	A549	lung
2	chr22:30642800-30645600	Enhancers	Gastric	stomach
3	chr22:30642800-30646400	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr22:30642800-30648800	Weak transcription	Right Atrium	heart
5	chr22:30643200-30645600	Flanking Active TSS	HepG2	liver
6	chr22:30643200-30647000	Weak transcription	Pancreas	Pancrea
7	chr22:30643200-30649000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr22:30643200-30651000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:30643400-30645600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr22:30643400-30645800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:30643400-30647400	Weak transcription	Lung	lung
12	chr22:30643400-30648400	Weak transcription	Esophagus	oesophagus
13	chr22:30643400-30649200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:30643600-30645800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr22:30643600-30647000	Enhancers	Fetal Intestine Large	intestine
16	chr22:30643600-30647400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr22:30643600-30648000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:30643600-30648000	Weak transcription	Fetal Brain Female	brain
19	chr22:30643600-30648800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:30643600-30649800	Enhancers	HMEC	breast
21	chr22:30643600-30650800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr22:30643600-30658400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr22:30643800-30645400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:30643800-30646000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr22:30643800-30647200	Weak transcription	GM12878-XiMat	blood
26	chr22:30643800-30648400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr22:30643800-30649000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr22:30643800-30650000	Enhancers	Osteobl	bone
29	chr22:30643800-30651000	Enhancers	NH-A	brain
30	chr22:30644000-30645400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:30644000-30645400	Enhancers	Small Intestine	intestine
32	chr22:30644000-30645400	Enhancers	Spleen	Spleen
33	chr22:30644000-30646400	Enhancers	Duodenum Mucosa	Duodenum
34	chr22:30644200-30645400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr22:30644200-30647400	Weak transcription	Fetal Brain Male	brain
36	chr22:30644400-30645400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr22:30644400-30645600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:30644400-30645600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr22:30644400-30645600	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr22:30644400-30646000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr22:30644400-30647600	Bivalent Enhancer	Placenta	Placenta
42	chr22:30644600-30645400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:30644600-30646600	Weak transcription	Primary B cells from cord blood	blood
44	chr22:30644600-30652000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:30644800-30645400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr22:30644800-30645600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr22:30644800-30645600	Enhancers	Fetal Lung	lung
48	chr22:30644800-30645600	Enhancers	Fetal Thymus	thymus
49	chr22:30644800-30645800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr22:30644800-30646200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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