Variant report

Variant	rs11603236
Chromosome Location	chr11:67230755-67230756
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67230511-67230974	MCF-7	breast:	n/a	n/a
2	YY1	chr11:67230682-67230902	K562	blood:	n/a	n/a
3	POLR2A	chr11:67230725-67230951	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:67230578-67230884	MCF-7	breast:	n/a	n/a
5	BHLHE40	chr11:67230694-67230880	K562	blood:	n/a	n/a
6	POLR2A	chr11:67230621-67232134	K562	blood:	n/a	n/a
7	MAX	chr11:67230703-67230968	K562	blood:	n/a	n/a
8	POLR2A	chr11:67230571-67233333	K562	blood:	n/a	n/a
9	CTCF	chr11:67230676-67230958	K562	blood:	n/a	n/a
10	SIN3AK20	chr11:67230555-67233239	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:67230604-67231036	K562	blood:	n/a	n/a
12	HCFC1	chr11:67230748-67230915	K562	blood:	n/a	n/a
13	POLR2A	chr11:67230680-67230885	MCF-7	breast:	n/a	n/a
14	JUN	chr11:67230597-67232794	K562	blood:	n/a	chr11:67231574-67231586 chr11:67232170-67232179 chr11:67231576-67231584 chr11:67231577-67231584 chr11:67231575-67231585
15	ZNF143	chr11:67230720-67230893	K562	blood:	n/a	n/a
16	NR2F2	chr11:67230577-67232549	K562	blood:	n/a	n/a
17	TEAD4	chr11:67230743-67231890	K562	blood:	n/a	n/a
18	MYC	chr11:67230738-67231060	K562	blood:	n/a	n/a
19	CTCF	chr11:67230636-67230912	K562	blood:	n/a	n/a
20	ZNF384	chr11:67230754-67231090	K562	blood:	n/a	n/a
21	CTCF	chr11:67230720-67230870	K562	blood:	n/a	n/a
22	UBTF	chr11:67230710-67230932	K562	blood:	n/a	n/a
23	E2F6	chr11:67230724-67230857	K562	blood:	n/a	n/a
24	UBTF	chr11:67230673-67230976	K562	blood:	n/a	n/a
25	CTCF	chr11:67230740-67230890	MCF-7	breast:	n/a	n/a
26	CTCFL	chr11:67230678-67230834	K562	blood:	n/a	n/a
27	HCFC1	chr11:67230624-67233381	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:67230518-67230985	K562	blood:	n/a	n/a
29	MAZ	chr11:67230693-67230930	K562	blood:	n/a	n/a
30	JUND	chr11:67230690-67232461	K562	blood:	n/a	chr11:67231574-67231586 chr11:67232170-67232179 chr11:67231576-67231584 chr11:67231577-67231584 chr11:67231575-67231585
31	RCOR1	chr11:67230684-67231022	K562	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67201799..67203957-chr11:67229051..67231861,3	K562	blood:
2	chr11:67175949..67181191-chr11:67230601..67234346,6	K562	blood:
3	chr11:67230622..67232854-chr11:67248914..67251189,3	MCF-7	breast:
4	chr11:67230145..67233819-chr11:67248914..67252066,4	K562	blood:
5	chr11:67218019..67220766-chr11:67230531..67233882,3	K562	blood:
6	chr11:67229953..67232204-chr6:151995538..151997819,2	MCF-7	breast:
7	chr11:67215208..67219901-chr11:67230573..67236211,5	K562	blood:
8	chr11:67121023..67122771-chr11:67229925..67232799,2	K562	blood:
9	chr11:66626403..66628670-chr11:67229720..67232252,2	K562	blood:
10	chr11:67160326..67163213-chr11:67229848..67232719,2	MCF-7	breast:
11	chr11:67230107..67238941-chr11:67268499..67277838,23	MCF-7	breast:
12	chr11:67204954..67212426-chr11:67228820..67232211,6	K562	blood:
13	chr11:67221211..67222819-chr11:67229683..67232141,2	K562	blood:
14	chr11:67187592..67190127-chr11:67230614..67234165,3	K562	blood:
15	chr11:67051198..67053837-chr11:67230277..67232997,2	MCF-7	breast:
16	chr11:67194291..67197631-chr11:67229995..67233154,6	K562	blood:
17	chr11:67229962..67234772-chr11:67234827..67242516,28	K562	blood:
18	chr11:67225990..67228470-chr11:67230116..67233017,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270169	TF binding region
ENSG00000175463	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000173599	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172508	Chromatin interaction
ENSG00000255949	Chromatin interaction
ENSG00000213402	Chromatin interaction
ENSG00000175634	Chromatin interaction
ENSG00000253024	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000175544	Chromatin interaction
ENSG00000175514	Chromatin interaction
ENSG00000269913	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11605263	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers 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	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription 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 target site	146 gene(s)	inside rSNPs	diseases
6	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
8	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
9	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
10	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
12	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription 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	146 gene(s)	inside rSNPs	diseases
15	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
16	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
17	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
18	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
21	esv1813337	chr11:67217703-67235815	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
22	nsv983155	chr11:67220251-67251432	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11603236	UTS2	trans	lymphoblastoid	seeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67211800-67231200	Weak transcription	Right Atrium	heart
2	chr11:67211800-67232000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:67217200-67231400	Weak transcription	Thymus	Thymus
4	chr11:67219000-67231400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:67220400-67231400	Weak transcription	Gastric	stomach
6	chr11:67220400-67231400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:67220400-67231400	Weak transcription	Right Ventricle	heart
8	chr11:67221400-67230800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:67223600-67231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:67226200-67231000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr11:67227200-67231200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:67227400-67231400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:67227400-67231800	Enhancers	Primary B cells from cord blood	blood
14	chr11:67227600-67230800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:67227600-67231200	Weak transcription	NHEK	skin
16	chr11:67227600-67231400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:67227600-67231400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:67227600-67231400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:67227600-67231400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:67227800-67230800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:67227800-67231000	Weak transcription	Fetal Thymus	thymus
22	chr11:67227800-67231200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:67228000-67230800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr11:67228000-67230800	Enhancers	Primary B cells from peripheral blood	blood
25	chr11:67228000-67231600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:67228200-67231400	Weak transcription	Fetal Stomach	stomach
27	chr11:67228200-67231600	Weak transcription	Primary T cells from cord blood	blood
28	chr11:67228400-67231800	Weak transcription	Brain Germinal Matrix	brain
29	chr11:67228800-67231200	Weak transcription	GM12878-XiMat	blood
30	chr11:67229200-67231200	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:67229600-67230800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:67229600-67231400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:67229800-67231600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:67230000-67231400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:67230000-67231800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:67230000-67231800	Enhancers	Placenta	Placenta
37	chr11:67230200-67231600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:67230400-67231400	Enhancers	A549	lung
39	chr11:67230600-67230800	Enhancers	K562	blood
40	chr11:67230600-67231000	Enhancers	Hela-S3	cervix
41	chr11:67230600-67231400	Strong transcription	Fetal Intestine Small	intestine
42	chr11:67230600-67231800	Enhancers	Pancreas	Pancrea
43	chr11:67230600-67231800	Enhancers	Spleen	Spleen
44	chr11:67230600-67232000	Enhancers	Stomach Mucosa	stomach
45	chr11:67230600-67232200	Enhancers	Small Intestine	intestine

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