Variant report

Variant	rs11913453
Chromosome Location	chr22:22128541-22128542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:22127949-22128707	K562	blood:	n/a	n/a
2	POLR2A	chr22:22128445-22128576	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr22:22127900-22128697	K562	blood:	n/a	n/a
4	CTCF	chr22:22128520-22128670	HBMEC	blood vessel:	n/a	n/a
5	POLR2A	chr22:22128031-22128782	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22127790..22129989-chr22:22156925..22159029,2	K562	blood:
2	chr22:22125720..22128636-chr22:22161159..22162923,2	K562	blood:
3	chr22:22127086..22129647-chr22:22272153..22274882,2	K562	blood:
4	chr22:22128103..22132629-chr22:22289657..22294176,6	K562	blood:
5	chr22:22126755..22128874-chr22:22292679..22294452,2	K562	blood:

No data

Variant related genes	Relation type
MAPK1	TF binding region
ENSG00000100034	Chromatin interaction
ENSG00000224086	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11912710	0.91[AFR][1000 genomes]
rs11914029	0.91[AFR][1000 genomes]
rs17759568	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2276008	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs34431893	0.84[AFR][1000 genomes]
rs55899028	0.84[AFR][1000 genomes]
rs56070517	0.84[AFR][1000 genomes]
rs5749811	1.00[YRI][hapmap]
rs57917247	0.83[AFR][1000 genomes]
rs57972001	0.91[AFR][1000 genomes]
rs58437134	0.91[AFR][1000 genomes]
rs58549474	0.84[AFR][1000 genomes]
rs59520604	0.91[AFR][1000 genomes]
rs61348040	0.84[AFR][1000 genomes]
rs61757984	0.84[AFR][1000 genomes]
rs66471117	0.84[AFR][1000 genomes]
rs73382365	0.84[AFR][1000 genomes]
rs73384128	0.84[AFR][1000 genomes]
rs73386248	0.91[AFR][1000 genomes]
rs73386249	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers 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	374 gene(s)	inside rSNPs	diseases
2	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
3	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
4	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	477 gene(s)	inside rSNPs	diseases
6	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
7	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
8	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer 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 target site	51 gene(s)	inside rSNPs	diseases
9	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	25 gene(s)	inside rSNPs	diseases
11	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription 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 target site	16 gene(s)	inside rSNPs	diseases
15	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
16	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription 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 target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22110600-22150600	Weak transcription	Fetal Heart	heart
2	chr22:22111000-22128600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr22:22111000-22128600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:22111200-22129200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:22111400-22128600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:22112400-22136800	Strong transcription	Dnd41	blood
7	chr22:22112800-22128800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:22112800-22128800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr22:22113400-22163800	Weak transcription	Right Atrium	heart
10	chr22:22113600-22128600	Strong transcription	HUVEC	blood vessel
11	chr22:22113600-22133200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr22:22114400-22128600	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:22114400-22128600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr22:22115200-22128800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr22:22115600-22128600	Strong transcription	Fetal Stomach	stomach
17	chr22:22116000-22128600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:22116000-22132800	Strong transcription	K562	blood
19	chr22:22116200-22128600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:22116200-22128800	Strong transcription	Fetal Intestine Small	intestine
21	chr22:22116600-22129000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:22116600-22129400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:22117000-22128600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:22117800-22129800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:22118800-22133400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr22:22119800-22128600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:22119800-22128600	Strong transcription	Primary T cells from cord blood	blood
28	chr22:22120600-22128600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr22:22121600-22171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:22121800-22128600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr22:22122200-22128800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr22:22122200-22132200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr22:22123200-22128600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr22:22123200-22133600	Strong transcription	Thymus	Thymus
35	chr22:22123200-22162200	Strong transcription	Fetal Thymus	thymus
36	chr22:22125400-22128600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:22125600-22128800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:22125800-22128600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr22:22125800-22128600	Strong transcription	Ovary	ovary
40	chr22:22125800-22128600	Strong transcription	HepG2	liver
41	chr22:22126000-22128600	Strong transcription	GM12878-XiMat	blood
42	chr22:22126800-22129400	Strong transcription	Fetal Muscle Leg	muscle
43	chr22:22127000-22130800	Weak transcription	HMEC	breast
44	chr22:22127000-22139200	Weak transcription	Stomach Mucosa	stomach
45	chr22:22127200-22128600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr22:22127200-22129200	Weak transcription	Brain Anterior Caudate	brain
47	chr22:22127200-22129200	Weak transcription	Colon Smooth Muscle	Colon
48	chr22:22127200-22129400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr22:22127200-22129400	Weak transcription	Right Ventricle	heart
50	chr22:22127200-22130400	Weak transcription	Lung	lung

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