Variant report

Variant	rs5996496
Chromosome Location	chr22:23562002-23562003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:23561624..23565353-chr22:23567235..23570222,4	MCF-7	breast:
2	chr22:23522393..23524341-chr22:23560398..23562335,2	MCF-7	breast:
3	chr22:23543179..23545939-chr22:23560834..23562452,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186716	Chromatin interaction
ENSG00000236794	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11702988	1.00[ASN][1000 genomes]
rs11703730	1.00[ASN][1000 genomes]
rs11704318	1.00[ASN][1000 genomes]
rs12157290	1.00[ASN][1000 genomes]
rs12160795	1.00[ASN][1000 genomes]
rs16998648	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs28742008	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs5996487	1.00[ASN][1000 genomes]
rs5996489	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5996491	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5996493	1.00[ASN][1000 genomes]
rs5996494	0.86[AFR][1000 genomes]
rs5996495	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs5996501	0.84[YRI][hapmap];0.81[AMR][1000 genomes]
rs6003552	1.00[ASN][1000 genomes]
rs6003553	1.00[ASN][1000 genomes]
rs6003554	1.00[ASN][1000 genomes]
rs6003555	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6003557	0.81[AMR][1000 genomes]
rs6003559	0.81[AMR][1000 genomes]
rs6003560	0.81[AMR][1000 genomes]
rs6003561	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6003566	0.86[AFR][1000 genomes]
rs6003567	0.86[AFR][1000 genomes]
rs6003568	0.86[AFR][1000 genomes]
rs6003569	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6003576	1.00[ASN][1000 genomes]
rs62219783	1.00[ASN][1000 genomes]
rs7285367	1.00[ASN][1000 genomes]
rs7286520	1.00[ASN][1000 genomes]
rs7286963	1.00[ASN][1000 genomes]
rs7287313	1.00[ASN][1000 genomes]
rs7287429	1.00[ASN][1000 genomes]
rs7288943	1.00[ASN][1000 genomes]
rs7289320	0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs7290258	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7290260	1.00[ASN][1000 genomes]
rs7290275	1.00[ASN][1000 genomes]
rs7290643	0.80[YRI][hapmap];1.00[ASN][1000 genomes]
rs7291888	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7292343	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8136130	1.00[ASN][1000 genomes]
rs8137379	1.00[ASN][1000 genomes]
rs8138947	1.00[ASN][1000 genomes]
rs8139366	1.00[ASN][1000 genomes]
rs8141268	1.00[ASN][1000 genomes]
rs8142547	1.00[ASN][1000 genomes]
rs9608087	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23552400-23564000	Enhancers	Right Ventricle	heart
2	chr22:23553200-23562600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:23554000-23570200	Enhancers	Placenta	Placenta
4	chr22:23554000-23570200	Enhancers	Left Ventricle	heart
5	chr22:23554200-23564200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:23556200-23563600	Enhancers	Brain Substantia Nigra	brain
7	chr22:23556400-23566600	Enhancers	Pancreas	Pancrea
8	chr22:23556400-23568400	Enhancers	Lung	lung
9	chr22:23556600-23563200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr22:23556600-23563200	Genic enhancers	Right Atrium	heart
11	chr22:23557200-23563000	Enhancers	Liver	Liver
12	chr22:23557200-23563200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr22:23557200-23563200	Enhancers	Fetal Heart	heart
14	chr22:23557200-23563800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:23557400-23563400	Enhancers	Aorta	Aorta
16	chr22:23557400-23563600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:23557400-23563600	Enhancers	Gastric	stomach
18	chr22:23557600-23563000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr22:23557600-23569000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr22:23557600-23570200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:23557800-23563200	Enhancers	Brain Angular Gyrus	brain
22	chr22:23557800-23564000	Enhancers	Brain Hippocampus Middle	brain
23	chr22:23557800-23568200	Enhancers	Spleen	Spleen
24	chr22:23558000-23563200	Flanking Active TSS	Dnd41	blood
25	chr22:23558200-23563000	Flanking Active TSS	Fetal Thymus	thymus
26	chr22:23558400-23563400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:23558600-23562800	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr22:23558600-23563800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr22:23558600-23564000	Enhancers	Esophagus	oesophagus
30	chr22:23558800-23562600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:23558800-23563000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:23558800-23563600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr22:23558800-23564000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr22:23559000-23563600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:23559000-23565600	Enhancers	HUVEC	blood vessel
36	chr22:23559400-23562400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr22:23559400-23562600	Genic enhancers	Fetal Intestine Small	intestine
38	chr22:23559400-23563200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr22:23559400-23563600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr22:23559400-23563800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr22:23559400-23564000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr22:23559400-23564000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr22:23559600-23563000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:23559600-23569200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:23559800-23563400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr22:23559800-23563600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:23559800-23563600	Enhancers	HMEC	breast
48	chr22:23560000-23562400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr22:23560000-23562600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:23560000-23562600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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