Variant report

Variant	rs1799959
Chromosome Location	chr11:62381106-62381107
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62379125-62381560	GM12892	blood:	n/a	n/a
2	MAZ	chr11:62378676-62381116	IMR90	lung:	n/a	n/a
3	POLR2A	chr11:62379143-62381515	SK-N-MC	brain:	n/a	n/a
4	RCOR1	chr11:62379027-62381183	IMR90	lung:	n/a	n/a
5	POLR2A	chr11:62379285-62381430	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:62378851-62381521	K562	blood:	n/a	n/a
7	POLR2A	chr11:62380597-62381555	GM12891	blood:	n/a	n/a
8	JUN	chr11:62378784-62381159	K562	blood:	n/a	chr11:62380596-62380605 chr11:62380682-62380692 chr11:62379883-62379892 chr11:62379887-62379896
9	ZNF263	chr11:62381092-62382420	HEK293-T-REx	kidney:	n/a	chr11:62382000-62382009 chr11:62381372-62381381 chr11:62382002-62382023 chr11:62381369-62381378 chr11:62382016-62382025 chr11:62381375-62381384 chr11:62381366-62381375
10	POLR2A	chr11:62380884-62381592	K562	blood:	n/a	n/a
11	PBX3	chr11:62380184-62381166	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr11:62380641-62381160	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:62380536-62381358	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr11:62380325-62381456	GM12892	blood:	n/a	n/a
15	SMARCB1	chr11:62379203-62381348	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:62380451-62381169	U87	brain:	n/a	n/a
17	CTCF	chr11:62378776-62381440	SK-N-SH	brain:	n/a	chr11:62380048-62380066 chr11:62380083-62380099 chr11:62381391-62381404 chr11:62380085-62380098 chr11:62380082-62380100 chr11:62380051-62380064
18	HCFC1	chr11:62378961-62382383	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:62380433-62381169	U87	brain:	n/a	n/a
20	POLR2A	chr11:62379735-62381126	Hela-S3	cervix:	n/a	n/a
21	ELF1	chr11:62380917-62381132	K562	blood:	n/a	n/a
22	POLR2A	chr11:62378999-62381495	GM12878	blood:	n/a	n/a
23	PBX3	chr11:62380315-62381165	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr11:62378894-62382468	K562	blood:	n/a	n/a
25	POLR2A	chr11:62378849-62381175	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr11:62379139-62381421	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:62380274-62382136	HepG2	liver:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62341571..62343456-chr11:62380691..62382479,2	MCF-7	breast:
2	chr11:62378551..62381260-chr11:62552189..62554776,3	K562	blood:
3	chr11:62379075..62382019-chr11:62621736..62623514,2	K562	blood:
4	chr11:62377281..62381950-chr11:62571197..62574724,7	K562	blood:
5	chr11:62381071..62383567-chr11:62400385..62403576,3	K562	blood:
6	chr11:62160287..62162043-chr11:62381088..62384436,3	K562	blood:
7	chr11:62373213..62384382-chr11:62430946..62441432,32	K562	blood:
8	chr11:62377695..62382560-chr11:62411978..62415698,6	MCF-7	breast:
9	chr11:62378127..62383239-chr11:62606559..62611171,5	K562	blood:
10	chr11:62373213..62382341-chr11:62430187..62440422,29	K562	blood:
11	chr11:62379585..62382197-chr11:62420262..62422410,4	MCF-7	breast:
12	chr11:62355644..62361752-chr11:62377047..62383949,17	MCF-7	breast:
13	chr11:62378641..62383731-chr11:62412268..62415992,8	K562	blood:
14	chr11:62379447..62382071-chr11:62443592..62448263,4	K562	blood:
15	chr11:62375885..62391030-chr11:62428132..62435550,30	MCF-7	breast:
16	chr11:62378127..62382168-chr11:62606723..62610399,5	MCF-7	breast:
17	chr11:62378832..62381851-chr11:62418002..62421701,6	K562	blood:
18	chr11:62379544..62381824-chr11:62648377..62649944,2	MCF-7	breast:
19	chr11:62379829..62381950-chr11:62572361..62574318,2	K562	blood:
20	chr11:62379915..62385772-chr11:62411575..62415305,8	MCF-7	breast:
21	chr11:62312633..62315593-chr11:62378252..62381432,4	MCF-7	breast:
22	chr11:62379764..62382350-chr11:62493558..62496251,2	MCF-7	breast:
23	chr11:62380126..62381894-chr11:62493421..62495399,2	MCF-7	breast:
24	chr11:62379189..62381832-chr11:62393317..62395975,2	MCF-7	breast:
25	chr11:62379239..62383319-chr11:62411576..62416139,7	K562	blood:
26	chr11:62377568..62383566-chr11:62416977..62422354,8	K562	blood:
27	chr11:62379447..62382071-chr11:62444982..62448263,3	K562	blood:
28	chr11:62378061..62382695-chr11:62418790..62422319,4	MCF-7	breast:
29	chr11:62373062..62383315-chr11:62429730..62439835,25	MCF-7	breast:
30	chr11:62378763..62382397-chr11:62538915..62541537,3	K562	blood:

No data

Variant related genes	Relation type
EML3	TF binding region
ENSG00000089597	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000255126	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000257058	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12292661	1.00[EUR][1000 genomes]
rs2956992	1.00[EUR][1000 genomes]
rs4343028	1.00[EUR][1000 genomes]
rs4387351	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55979088	1.00[EUR][1000 genomes]
rs73502110	1.00[EUR][1000 genomes]
rs948683	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
5	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic 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	245 gene(s)	inside rSNPs	diseases
6	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	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
8	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
9	nsv897622	chr11:62366986-62392229	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62379800-62381800	Weak transcription	Primary T cells from cord blood	blood
2	chr11:62379800-62384200	Weak transcription	Fetal Lung	lung
3	chr11:62380000-62386600	Weak transcription	GM12878-XiMat	blood
4	chr11:62380200-62383800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:62380400-62381200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:62380400-62381200	Enhancers	Pancreas	Pancrea
7	chr11:62380400-62381200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:62380400-62381400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:62380400-62381400	Flanking Active TSS	HepG2	liver
10	chr11:62380400-62382600	Enhancers	NHEK	skin
11	chr11:62380400-62384200	Weak transcription	Aorta	Aorta
12	chr11:62380400-62386600	Weak transcription	HSMMtube	muscle
13	chr11:62380600-62381200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr11:62380600-62381200	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr11:62380600-62381200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr11:62380600-62381400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:62380600-62381400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:62380600-62381400	Flanking Active TSS	Hela-S3	cervix
19	chr11:62380600-62382000	Enhancers	Placenta	Placenta
20	chr11:62380600-62382000	Genic enhancers	NHLF	lung
21	chr11:62380600-62382200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:62380600-62382400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:62380600-62382400	Enhancers	Stomach Mucosa	stomach
24	chr11:62380600-62382400	Enhancers	HMEC	breast
25	chr11:62380600-62382600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr11:62380600-62382600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:62380600-62382800	Weak transcription	Ovary	ovary
28	chr11:62380600-62387800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:62380600-62388000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:62380600-62388000	Weak transcription	Psoas Muscle	Psoas
31	chr11:62380600-62388200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:62380600-62388400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:62380800-62381200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:62380800-62381200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:62380800-62381200	Enhancers	Adipose Nuclei	Adipose
36	chr11:62380800-62381200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:62380800-62381200	Enhancers	Fetal Muscle Trunk	muscle
38	chr11:62380800-62381400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr11:62380800-62381400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr11:62380800-62381400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:62380800-62381400	Enhancers	NHDF-Ad	bronchial
42	chr11:62380800-62381600	Enhancers	Colonic Mucosa	Colon
43	chr11:62380800-62381600	Weak transcription	Thymus	Thymus
44	chr11:62380800-62381800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:62380800-62382000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr11:62380800-62382000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:62380800-62382000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:62380800-62382000	Enhancers	Liver	Liver
49	chr11:62380800-62382000	Enhancers	Duodenum Mucosa	Duodenum
50	chr11:62380800-62382000	Weak transcription	Fetal Stomach	stomach

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