Variant report

Variant	rs7290653
Chromosome Location	chr22:23493873-23493874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:23488468..23492750-chr22:23493638..23496151,4	MCF-7	breast:
2	chr22:23493765..23495502-chr22:23500270..23503203,2	MCF-7	breast:
3	chr22:23493617..23494117-chr22:23509321..23509833,2	MCF-7	breast:
4	chr22:23493175..23494139-chr22:23509321..23510213,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100228	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1004932	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10427901	1.00[AMR][1000 genomes]
rs13433645	0.85[AMR][1000 genomes]
rs16997606	1.00[AMR][1000 genomes]
rs16998450	1.00[AMR][1000 genomes]
rs16998453	1.00[AMR][1000 genomes]
rs28550289	1.00[AMR][1000 genomes]
rs28637025	1.00[AMR][1000 genomes]
rs28709343	1.00[AMR][1000 genomes]
rs6003517	0.85[AMR][1000 genomes]
rs62220910	0.85[AMR][1000 genomes]
rs7284641	1.00[AMR][1000 genomes]
rs7286872	1.00[AMR][1000 genomes]
rs7287068	0.85[AMR][1000 genomes]
rs7291739	1.00[AMR][1000 genomes]
rs8142831	1.00[AMR][1000 genomes]
rs8143110	1.00[AMR][1000 genomes]
rs9624021	0.85[AMR][1000 genomes]
rs9624024	0.85[AMR][1000 genomes]
rs9624025	0.85[AMR][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	esv1803110	chr22:22731758-23497674	Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	esv34158	chr22:23216762-23499513	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
25	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
26	nsv544616	chr22:23474827-23495231	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23487800-23499000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr22:23488000-23499400	Weak transcription	Right Ventricle	heart
3	chr22:23488200-23494600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:23488200-23505800	Weak transcription	HSMMtube	muscle
5	chr22:23488400-23494800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr22:23488400-23495000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr22:23488400-23499000	Weak transcription	Colonic Mucosa	Colon
8	chr22:23488400-23499000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr22:23488400-23499200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:23488400-23505800	Weak transcription	Brain Substantia Nigra	brain
11	chr22:23488600-23505800	Weak transcription	Brain Germinal Matrix	brain
12	chr22:23488600-23506800	Weak transcription	A549	lung
13	chr22:23488800-23505400	Weak transcription	Fetal Brain Male	brain
14	chr22:23489000-23494400	Weak transcription	GM12878-XiMat	blood
15	chr22:23489000-23496400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:23489200-23494200	Weak transcription	Spleen	Spleen
17	chr22:23489200-23497400	Weak transcription	Fetal Kidney	kidney
18	chr22:23489200-23499800	Weak transcription	NHLF	lung
19	chr22:23489800-23498400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:23490200-23496800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:23490200-23500200	Weak transcription	Fetal Lung	lung
22	chr22:23490200-23504800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr22:23490400-23498400	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr22:23490400-23499000	Weak transcription	Stomach Mucosa	stomach
25	chr22:23490400-23506800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr22:23490400-23522000	Weak transcription	Aorta	Aorta
27	chr22:23490600-23494000	Weak transcription	NHEK	skin
28	chr22:23490600-23498600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:23491000-23498000	Weak transcription	Gastric	stomach
30	chr22:23491000-23504600	Strong transcription	Stomach Smooth Muscle	stomach
31	chr22:23491200-23512000	Strong transcription	Right Atrium	heart
32	chr22:23491400-23494200	Weak transcription	Pancreas	Pancrea
33	chr22:23491400-23494600	Enhancers	Primary B cells from cord blood	blood
34	chr22:23491600-23494400	Strong transcription	Brain Anterior Caudate	brain
35	chr22:23491800-23494000	Strong transcription	Fetal Intestine Small	intestine
36	chr22:23491800-23494400	Strong transcription	Ovary	ovary
37	chr22:23491800-23499400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr22:23492000-23494200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr22:23492000-23494600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:23492000-23494600	Enhancers	HepG2	liver
41	chr22:23492000-23495800	Strong transcription	Brain Cingulate Gyrus	brain
42	chr22:23492200-23496600	Strong transcription	Brain Hippocampus Middle	brain
43	chr22:23492200-23505800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:23492400-23494000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:23492400-23494000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:23492400-23494400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr22:23492400-23495800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr22:23492400-23496200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr22:23492400-23496400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:23492400-23496400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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