Variant report

Variant	rs5996504
Chromosome Location	chr22:23587911-23587912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:23520505..23525009-chr22:23583868..23589502,6	MCF-7	breast:
2	chr22:23583747..23587100-chr22:23587236..23592263,6	MCF-7	breast:
3	chr22:23519543..23521281-chr22:23587399..23590262,2	MCF-7	breast:
4	chr22:23533495..23535148-chr22:23585840..23588084,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236794	Chromatin interaction
ENSG00000186716	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6003583	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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
25	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
26	nsv482557	chr22:23584948-23741799	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23570000-23589800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr22:23573800-23593400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr22:23579200-23588800	Weak transcription	Stomach Mucosa	stomach
4	chr22:23580200-23589000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:23580400-23589000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:23582000-23589600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:23582800-23588400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:23583000-23588600	Enhancers	Thymus	Thymus
9	chr22:23583200-23588000	Enhancers	Fetal Intestine Large	intestine
10	chr22:23583400-23588000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:23583400-23588400	Enhancers	Brain Anterior Caudate	brain
12	chr22:23583400-23590800	Weak transcription	Adipose Nuclei	Adipose
13	chr22:23583600-23588000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:23583600-23588600	Weak transcription	Liver	Liver
15	chr22:23583600-23588800	Weak transcription	Left Ventricle	heart
16	chr22:23583800-23596000	Weak transcription	Colonic Mucosa	Colon
17	chr22:23584200-23588600	Enhancers	NH-A	brain
18	chr22:23584800-23588400	Enhancers	HSMMtube	muscle
19	chr22:23585200-23590000	Weak transcription	Fetal Kidney	kidney
20	chr22:23585200-23595000	Weak transcription	Dnd41	blood
21	chr22:23585200-23595800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr22:23585400-23590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:23585400-23593800	Weak transcription	Fetal Heart	heart
24	chr22:23585600-23590000	Enhancers	Fetal Thymus	thymus
25	chr22:23585600-23590000	Weak transcription	Small Intestine	intestine
26	chr22:23585600-23590800	Weak transcription	Right Atrium	heart
27	chr22:23585600-23595800	Weak transcription	Fetal Brain Female	brain
28	chr22:23585800-23588000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr22:23585800-23589800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr22:23585800-23591800	Weak transcription	Placenta	Placenta
31	chr22:23585800-23592800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr22:23585800-23592800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr22:23585800-23593400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr22:23585800-23594200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr22:23585800-23594400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr22:23585800-23594400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr22:23585800-23594600	Enhancers	Primary T cells fromperipheralblood	blood
38	chr22:23585800-23596000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr22:23585800-23605600	Weak transcription	Fetal Lung	lung
40	chr22:23586000-23589600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr22:23586200-23588200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr22:23586200-23590000	Enhancers	Pancreas	Pancrea
43	chr22:23586400-23588000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr22:23586400-23588000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr22:23586400-23589800	Strong transcription	K562	blood
46	chr22:23586400-23590000	Weak transcription	GM12878-XiMat	blood
47	chr22:23586400-23590200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:23586600-23588000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:23586600-23588000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr22:23586600-23588000	Enhancers	Brain Inferior Temporal Lobe	brain

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