Variant report

Variant	rs11125521
Chromosome Location	chr2:54352358-54352359
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
2	chr2:54341659..54344698-chr2:54352246..54354996,3	MCF-7	breast:
3	chr2:54352052..54355360-chr2:54358848..54360965,3	K562	blood:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1001296	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10169755	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181332	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10199041	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10199945	1.00[CHD][hapmap]
rs10207892	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs10208649	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11680886	1.00[CHB][hapmap]
rs11682807	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884327	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11884857	1.00[CHB][hapmap]
rs11889527	1.00[CHB][hapmap]
rs11890472	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11891079	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11896279	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11904365	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13390377	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13394575	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13401719	1.00[CHB][hapmap]
rs13407966	1.00[CHD][hapmap]
rs13414565	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13425337	1.00[CHB][hapmap]
rs1559040	0.93[GIH][hapmap]
rs17045513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17045575	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17045645	1.00[CHB][hapmap]
rs17045755	1.00[CHB][hapmap]
rs17189680	1.00[CHB][hapmap]
rs17189743	1.00[CHB][hapmap]
rs17189799	1.00[CHB][hapmap]
rs1872328	1.00[CHB][hapmap]
rs2080813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090182	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs34433964	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4553857	1.00[CHB][hapmap]
rs6751340	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs72906778	0.82[AFR][1000 genomes]
rs7559651	1.00[CHB][hapmap]
rs7561836	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7567556	1.00[CHB][hapmap]
rs7567614	1.00[CHB][hapmap]
rs7594400	1.00[CHB][hapmap]
rs7604464	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv1851003	chr2:54324701-54372931	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
10	nsv1007731	chr2:54331179-54452329	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	nsv535723	chr2:54331179-54452329	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	nsv961690	chr2:54339295-54359290	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
13	nsv1006984	chr2:54343466-54384094	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv874148	chr2:54344325-54432222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	nsv1000652	chr2:54345892-54469703	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv1003889	chr2:54347750-54424601	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv582011	chr2:54348704-54384927	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv1011433	chr2:54351145-54424601	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv1012230	chr2:54351988-54422959	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54343400-54353000	Weak transcription	Fetal Lung	lung
2	chr2:54343400-54388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:54343800-54355800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:54348200-54353600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:54348400-54361800	Weak transcription	Brain Anterior Caudate	brain
6	chr2:54348600-54362200	Weak transcription	Liver	Liver
7	chr2:54348600-54365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:54348600-54365800	Weak transcription	Left Ventricle	heart
9	chr2:54348800-54362000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:54349000-54352400	Enhancers	NHEK	skin
11	chr2:54349000-54352600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:54349200-54366000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:54349400-54360200	Weak transcription	Primary B cells from cord blood	blood
14	chr2:54350000-54365800	Weak transcription	Psoas Muscle	Psoas
15	chr2:54350400-54352400	Enhancers	HepG2	liver
16	chr2:54350400-54365800	Weak transcription	Primary T cells from cord blood	blood
17	chr2:54350600-54382600	Weak transcription	Aorta	Aorta
18	chr2:54351000-54352400	Enhancers	HMEC	breast
19	chr2:54351200-54354600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:54351200-54355400	Weak transcription	Osteobl	bone
21	chr2:54351200-54360200	Weak transcription	HSMMtube	muscle
22	chr2:54351200-54365800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:54351200-54365800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:54351400-54354000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:54352200-54353600	Weak transcription	K562	blood
26	chr2:54352200-54362000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:54352200-54411400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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