Variant report

Variant	rs7952481
Chromosome Location	chr11:85954422-85954423
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr11:85954403-85956517	K562	blood:	n/a	n/a
2	SREBP1	chr11:85954186-85957169	GM12878	blood:	n/a	n/a
3	ARID3A	chr11:85954407-85956646	K562	blood:	n/a	chr11:85956002-85956010
4	IRF1	chr11:85954339-85956723	K562	blood:	n/a	chr11:85956519-85956536 chr11:85956226-85956240
5	HCFC1	chr11:85954034-85957473	Hela-S3	cervix:	n/a	n/a
6	TEAD4	chr11:85954418-85954882	K562	blood:	n/a	n/a
7	TBL1XR1	chr11:85954358-85955120	K562	blood:	n/a	n/a
8	TEAD4	chr11:85954290-85957190	K562	blood:	n/a	n/a
9	TAL1	chr11:85954350-85955361	K562	blood:	n/a	chr11:85954669-85954687
10	EP300	chr11:85954415-85956412	K562	blood:	n/a	chr11:85954610-85954619
11	GATA1	chr11:85953700-85956398	PBDE	blood:	n/a	chr11:85954677-85954689 chr11:85954669-85954686 chr11:85954675-85954691 chr11:85955040-85955049 chr11:85954678-85954688 chr11:85954680-85954687 chr11:85954678-85954687 chr11:85954680-85954690 chr11:85954974-85954984
12	POLR2A	chr11:85954368-85956497	PBDE	blood:	n/a	n/a
13	JUN	chr11:85954231-85956462	K562	blood:	n/a	n/a
14	NRF1	chr11:85954293-85954495	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:85778609..85781292-chr11:85954393..85956232,2	K562	blood:
2	chr11:85775017..85777690-chr11:85953768..85955485,2	K562	blood:
3	chr11:85871686..85873473-chr11:85953832..85955582,2	K562	blood:
4	chr11:85913237..85915607-chr11:85952212..85954653,2	K562	blood:
5	chr11:85780488..85782711-chr11:85954373..85957163,3	MCF-7	breast:
6	chr11:85813540..85816535-chr11:85952453..85954783,2	K562	blood:

Variant related genes	Relation type
EED	TF binding region
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10792839	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10898451	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1466803	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1472422	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2374721	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3851186	0.83[EUR][1000 genomes]
rs3851189	0.86[EUR][1000 genomes]
rs6592278	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7128259	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7925413	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7929518	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7947529	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7950735	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85941600-85955000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:85951800-85954600	Weak transcription	HepG2	liver
3	chr11:85953000-85955000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:85953200-85954600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:85953200-85954800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:85953200-85955000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr11:85953200-85955000	Flanking Active TSS	K562	blood
8	chr11:85953800-85954800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:85954000-85954600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:85954000-85955000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr11:85954200-85954600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:85954200-85955000	Enhancers	Primary hematopoietic stem cells	blood
13	chr11:85954200-85955400	Flanking Active TSS	GM12878-XiMat	blood
14	chr11:85954400-85954800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:85954400-85954800	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr11:85954400-85954800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr11:85954400-85954800	Enhancers	Hela-S3	cervix
18	chr11:85954400-85955000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr11:85954400-85955000	Enhancers	Primary B cells from cord blood	blood
20	chr11:85954400-85955000	Enhancers	Primary B cells from peripheral blood	blood
21	chr11:85954400-85955000	Enhancers	Brain Anterior Caudate	brain
22	chr11:85954400-85955000	Enhancers	Fetal Intestine Small	intestine
23	chr11:85954400-85955400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:85954400-85955400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:85954400-85955400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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