Variant report

Variant	rs4387351
Chromosome Location	chr11:62380732-62380733
allele	C/T
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	MAX	chr11:62379702-62380771	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:62380492-62381061	GM12892	blood:	n/a	n/a
3	CTCF	chr11:62380600-62380750	AG09309	skin:	n/a	n/a
4	MAFK	chr11:62380480-62380860	Hela-S3	cervix:	n/a	chr11:62380684-62380693 chr11:62380682-62380697 chr11:62380679-62380695 chr11:62380683-62380693 chr11:62380680-62380694 chr11:62380677-62380697
5	MYC	chr11:62380039-62380745	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr11:62379125-62381560	GM12892	blood:	n/a	n/a
7	CREB1	chr11:62379221-62380800	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:62379908-62380973	U87	brain:	n/a	n/a
9	BCL3	chr11:62380234-62380801	A549	lung:	n/a	n/a
10	POLR2A	chr11:62379575-62381019	HL-60	blood:	n/a	n/a
11	MAZ	chr11:62378676-62381116	IMR90	lung:	n/a	n/a
12	POLR2A	chr11:62379143-62381515	SK-N-MC	brain:	n/a	n/a
13	RCOR1	chr11:62379027-62381183	IMR90	lung:	n/a	n/a
14	MAFK	chr11:62380552-62380797	H1-hESC	embryonic stem cell:	n/a	chr11:62380684-62380693 chr11:62380682-62380697 chr11:62380679-62380695 chr11:62380683-62380693 chr11:62380680-62380694 chr11:62380677-62380697
15	CTCF	chr11:62379007-62380759	HCT-116	colon:	n/a	chr11:62380048-62380066 chr11:62380083-62380099 chr11:62380085-62380098 chr11:62380082-62380100 chr11:62380051-62380064
16	STAT5A	chr11:62379466-62380923	GM12878	blood:	n/a	chr11:62379998-62380010 chr11:62380417-62380429
17	MAZ	chr11:62379126-62380737	K562	blood:	n/a	n/a
18	POLR2A	chr11:62379285-62381430	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:62378851-62381521	K562	blood:	n/a	n/a
20	POLR2A	chr11:62378818-62380889	PFSK-1	brain:	n/a	n/a
21	MAX	chr11:62379138-62380854	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:62380459-62380838	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:62380597-62381555	GM12891	blood:	n/a	n/a
24	POLR2A	chr11:62380446-62380984	MCF-7	breast:	n/a	n/a
25	JUN	chr11:62378784-62381159	K562	blood:	n/a	chr11:62380596-62380605 chr11:62380682-62380692 chr11:62379883-62379892 chr11:62379887-62379896
26	FOS	chr11:62380583-62380806	MCF10A-Er-Src	breast:	n/a	chr11:62380596-62380605 chr11:62380682-62380692
27	STAT3	chr11:62380349-62380760	MCF10A-Er-Src	breast:	n/a	chr11:62380417-62380429
28	ZBTB7A	chr11:62379439-62380757	ECC-1	luminal epithelium:	n/a	chr11:62380090-62380099 chr11:62380056-62380065
29	RCOR1	chr11:62380730-62380891	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:62379911-62380885	ProgFib	skin:	n/a	n/a
31	MTA3	chr11:62380401-62380979	GM12878	blood:	n/a	n/a
32	ELF1	chr11:62378784-62381035	GM12878	blood:	n/a	chr11:62379951-62379963 chr11:62379953-62379962
33	RCOR1	chr11:62379146-62380947	Hela-S3	cervix:	n/a	n/a
34	MAX	chr11:62379069-62380983	A549	lung:	n/a	n/a
35	PML	chr11:62379048-62380732	GM12878	blood:	n/a	n/a
36	PBX3	chr11:62380184-62381166	SK-N-SH	brain:	n/a	n/a
37	MYC	chr11:62380700-62380750	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:62380565-62381053	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:62380584-62380841	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZKSCAN1	chr11:62380628-62380983	Hela-S3	cervix:	n/a	n/a
41	NR2F2	chr11:62379773-62381016	MCF-7	breast:	n/a	n/a
42	POLR2A	chr11:62380063-62381017	SK-N-SH	brain:	n/a	n/a
43	EGR1	chr11:62379916-62380746	HCT-116	colon:	n/a	chr11:62380325-62380335 chr11:62380320-62380334 chr11:62380320-62380333 chr11:62380320-62380333 chr11:62380088-62380098 chr11:62380320-62380333 chr11:62380323-62380332 chr11:62380321-62380335 chr11:62380393-62380406 chr11:62380320-62380333 chr11:62380393-62380406 chr11:62380492-62380501
44	EBF1	chr11:62379343-62380821	GM12878	blood:	n/a	chr11:62380404-62380417 chr11:62380406-62380416 chr11:62380406-62380415 chr11:62380405-62380416
45	BACH1	chr11:62380530-62380868	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr11:62380641-62381160	GM12891	blood:	n/a	n/a
47	ZBTB7A	chr11:62379132-62380828	ECC-1	luminal epithelium:	n/a	chr11:62380090-62380099 chr11:62380056-62380065
48	SIN3A	chr11:62379117-62380789	H1-hESC	embryonic stem cell:	n/a	chr11:62380060-62380073 chr11:62380448-62380459
49	SP1	chr11:62379798-62380776	A549	lung:	n/a	chr11:62380391-62380400 chr11:62380324-62380336 chr11:62380325-62380335 chr11:62380170-62380180 chr11:62379890-62379899 chr11:62380169-62380181 chr11:62380508-62380518 chr11:62380392-62380405 chr11:62380392-62380401 chr11:62380508-62380517 chr11:62380325-62380335 chr11:62380509-62380518 chr11:62380507-62380519 chr11:62379997-62380011 chr11:62380390-62380402 chr11:62380443-62380452 chr11:62379890-62379899 chr11:62379889-62379901 chr11:62380597-62380607 chr11:62380498-62380512 chr11:62379891-62379900 chr11:62380391-62380400 chr11:62379889-62379901 chr11:62380326-62380335 chr11:62380509-62380518 chr11:62380450-62380464 chr11:62380507-62380519 chr11:62380442-62380456 chr11:62380325-62380334 chr11:62380170-62380179 chr11:62380326-62380335 chr11:62380324-62380336
50	CHD2	chr11:62379329-62380737	Hela-S3	cervix:	n/a	chr11:62379889-62379899

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	chr11:62358637..62359599-chr11:62379905..62380840,3	MCF-7	breast:
6	chr11:62373213..62384382-chr11:62430946..62441432,32	K562	blood:
7	chr11:62377842..62380816-chr11:62605555..62609086,5	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	chr11:62380132..62380744-chr9:131790145..131790847,2	Hela-S3	cervix:
13	chr11:62355644..62361752-chr11:62377047..62383949,17	MCF-7	breast:
14	chr11:62378641..62383731-chr11:62412268..62415992,8	K562	blood:
15	chr11:62379447..62382071-chr11:62443592..62448263,4	K562	blood:
16	chr11:62375885..62391030-chr11:62428132..62435550,30	MCF-7	breast:
17	chr11:62378127..62382168-chr11:62606723..62610399,5	MCF-7	breast:
18	chr11:62378832..62381851-chr11:62418002..62421701,6	K562	blood:
19	chr11:62379544..62381824-chr11:62648377..62649944,2	MCF-7	breast:
20	chr11:62379829..62381950-chr11:62572361..62574318,2	K562	blood:
21	chr11:62379915..62385772-chr11:62411575..62415305,8	MCF-7	breast:
22	chr11:62312633..62315593-chr11:62378252..62381432,4	MCF-7	breast:
23	chr11:62379764..62382350-chr11:62493558..62496251,2	MCF-7	breast:
24	chr11:62380126..62381894-chr11:62493421..62495399,2	MCF-7	breast:
25	chr11:62379189..62381832-chr11:62393317..62395975,2	MCF-7	breast:
26	chr11:62379239..62383319-chr11:62411576..62416139,7	K562	blood:
27	chr11:62377568..62383566-chr11:62416977..62422354,8	K562	blood:
28	chr11:62379447..62382071-chr11:62444982..62448263,3	K562	blood:
29	chr11:62378061..62382695-chr11:62418790..62422319,4	MCF-7	breast:
30	chr11:62373062..62383315-chr11:62429730..62439835,25	MCF-7	breast:
31	chr11:62378763..62382397-chr11:62538915..62541537,3	K562	blood:

Variant related genes	Relation type
EML3	TF binding region
ROM1	TF binding region
ENSG00000162222	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000257058	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000148341	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000234857	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12292661	1.00[EUR][1000 genomes]
rs1799959	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2584915	1.00[TSI][hapmap]
rs2956992	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4343028	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs481272	1.00[TSI][hapmap]
rs486451	1.00[TSI][hapmap]
rs4963309	1.00[TSI][hapmap]
rs55979088	1.00[EUR][1000 genomes]
rs564587	1.00[TSI][hapmap]
rs572513	1.00[TSI][hapmap]
rs575134	1.00[TSI][hapmap]
rs631714	1.00[TSI][hapmap]
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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62378600-62381000	Enhancers	Fetal Brain Male	brain
2	chr11:62379000-62380800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:62379000-62381000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:62379200-62380800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:62379400-62380800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:62379400-62380800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr11:62379400-62380800	Active TSS	Osteobl	bone
8	chr11:62379400-62381000	Active TSS	Fetal Brain Female	brain
9	chr11:62379600-62380800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:62379600-62380800	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:62379600-62380800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:62379600-62380800	Active TSS	NH-A	brain
13	chr11:62379600-62381000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr11:62379800-62380800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:62379800-62380800	Weak transcription	Fetal Heart	heart
16	chr11:62379800-62380800	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr11:62379800-62381800	Weak transcription	Primary T cells from cord blood	blood
18	chr11:62379800-62384200	Weak transcription	Fetal Lung	lung
19	chr11:62380000-62386600	Weak transcription	GM12878-XiMat	blood
20	chr11:62380200-62381000	Enhancers	HUVEC	blood vessel
21	chr11:62380200-62383800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:62380400-62380800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr11:62380400-62380800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:62380400-62380800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr11:62380400-62380800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr11:62380400-62380800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr11:62380400-62380800	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr11:62380400-62380800	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr11:62380400-62380800	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr11:62380400-62380800	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr11:62380400-62381000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:62380400-62381000	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr11:62380400-62381000	Enhancers	Lung	lung
34	chr11:62380400-62381000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr11:62380400-62381200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:62380400-62381200	Enhancers	Pancreas	Pancrea
37	chr11:62380400-62381200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:62380400-62381400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:62380400-62381400	Flanking Active TSS	HepG2	liver
40	chr11:62380400-62382600	Enhancers	NHEK	skin
41	chr11:62380400-62384200	Weak transcription	Aorta	Aorta
42	chr11:62380400-62386600	Weak transcription	HSMMtube	muscle
43	chr11:62380600-62380800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr11:62380600-62380800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:62380600-62380800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:62380600-62380800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:62380600-62380800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:62380600-62380800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr11:62380600-62380800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:62380600-62380800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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