Variant report

Variant	rs7121488
Chromosome Location	chr11:62528092-62528093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr11:62528049-62528705	K562	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62520365..62524255-chr11:62526885..62533181,10	K562	blood:
2	chr11:62527533..62531903-chr11:62596696..62600047,4	MCF-7	breast:
3	chr11:62492526..62495335-chr11:62527541..62534068,6	K562	blood:
4	chr11:62527628..62534466-chr11:62606496..62609519,8	K562	blood:
5	chr11:62492351..62496994-chr11:62525479..62531629,8	MCF-7	breast:
6	chr11:62525551..62528271-chr11:62601304..62603216,2	MCF-7	breast:
7	chr11:62527475..62529562-chr11:62571999..62573664,3	MCF-7	breast:
8	chr11:62437834..62441678-chr11:62528022..62529597,3	MCF-7	breast:
9	chr11:62489711..62491789-chr11:62527805..62529404,2	MCF-7	breast:
10	chr11:62526764..62531621-chr11:62534753..62540285,8	K562	blood:
11	chr11:62524721..62529764-chr11:62607028..62611019,8	K562	blood:
12	chr11:62526685..62530530-chr11:62620957..62624924,5	K562	blood:
13	chr11:62493351..62498967-chr11:62525383..62529651,6	K562	blood:
14	chr11:62527434..62531276-chr11:62551815..62555730,6	K562	blood:
15	chr11:62527434..62531583-chr11:62553078..62556221,7	K562	blood:
16	chr11:62527671..62530483-chr11:62558571..62560981,2	K562	blood:
17	chr11:62412367..62415270-chr11:62527410..62529338,2	K562	blood:
18	chr11:62526894..62529687-chr11:62620957..62624297,6	K562	blood:
19	chr11:62489834..62499984-chr11:62527523..62534733,19	MCF-7	breast:
20	chr11:62526327..62528810-chr11:62656174..62658859,2	K562	blood:
21	chr11:62431946..62440629-chr11:62523095..62533975,14	K562	blood:
22	chr11:62526880..62529079-chr11:62548872..62550988,2	MCF-7	breast:

No data

Variant related genes	Relation type
POLR2G	TF binding region
ENSG00000214753	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000256690	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000168569	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7101685	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62522200-62528800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:62522200-62529000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:62522400-62528400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr11:62522400-62528400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:62522400-62528400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:62522400-62528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:62522400-62528600	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:62522400-62529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:62522400-62529000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:62522600-62528400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:62522800-62528400	Weak transcription	Dnd41	blood
12	chr11:62523200-62528400	Weak transcription	K562	blood
13	chr11:62523200-62528600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:62525800-62528600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:62526000-62528400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:62526000-62529000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:62526000-62529000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:62526200-62528400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:62526200-62528400	Weak transcription	Brain Angular Gyrus	brain
20	chr11:62526200-62528400	Weak transcription	Brain Anterior Caudate	brain
21	chr11:62526200-62528400	Weak transcription	HepG2	liver
22	chr11:62526200-62528600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:62526200-62528600	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:62526200-62529000	Weak transcription	Brain Substantia Nigra	brain
25	chr11:62526400-62528600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:62526400-62529000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:62527000-62528200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:62527000-62528400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:62527000-62528400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:62527000-62529000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:62527200-62529000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:62527200-62529000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:62527800-62528600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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