Variant report

Variant	rs17744606
Chromosome Location	chr11:85565450-85565451
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	YY1	chr11:85565448-85566143	ECC-1	luminal epithelium:	n/a	chr11:85566015-85566029 chr11:85566101-85566112 chr11:85566015-85566024 chr11:85566018-85566027 chr11:85565688-85565698
2	MAFK	chr11:85565449-85566219	HepG2	liver:	n/a	n/a
3	CTCF	chr11:85565312-85566601	A549	lung:	n/a	chr11:85566059-85566069 chr11:85566056-85566077 chr11:85566057-85566070 chr11:85566055-85566071 chr11:85566054-85566072 chr11:85566057-85566070
4	YY1	chr11:85565434-85566351	H1-hESC	embryonic stem cell:	n/a	chr11:85566015-85566029 chr11:85566101-85566112 chr11:85566015-85566024 chr11:85566018-85566027 chr11:85565688-85565698
5	RAD21	chr11:85565322-85566814	SK-N-SH	brain:	n/a	chr11:85566055-85566074 chr11:85566056-85566070
6	CHD1	chr11:85565350-85566949	IMR90	lung:	n/a	n/a
7	MAX	chr11:85565443-85566481	MCF-7	breast:	n/a	chr11:85566134-85566143
8	TCF12	chr11:85565318-85566369	A549	lung:	n/a	chr11:85565948-85565955 chr11:85565944-85565954
9	MAFK	chr11:85565450-85565770	HepG2	liver:	n/a	n/a
10	YY1	chr11:85565420-85566215	SK-N-SH_RA	brain:	n/a	chr11:85566015-85566029 chr11:85566101-85566112 chr11:85566015-85566024 chr11:85566018-85566027 chr11:85565688-85565698
11	POLR2A	chr11:85565343-85566440	PANC-1	pancreas:	n/a	n/a
12	E2F6	chr11:85565360-85566319	A549	lung:	n/a	chr11:85565985-85565996 chr11:85566018-85566027 chr11:85565984-85565996
13	SIN3AK20	chr11:85565337-85566596	MCF-7	breast:	n/a	n/a
14	SMC3	chr11:85565372-85567017	SK-N-SH	brain:	n/a	chr11:85566056-85566063 chr11:85566414-85566422 chr11:85566056-85566070
15	YY1	chr11:85565445-85566274	SK-N-SH_RA	brain:	n/a	chr11:85566015-85566029 chr11:85566101-85566112 chr11:85566015-85566024 chr11:85566018-85566027 chr11:85565688-85565698
16	MAZ	chr11:85565216-85566775	IMR90	lung:	n/a	chr11:85566134-85566143
17	MAX	chr11:85565282-85566483	A549	lung:	n/a	chr11:85566134-85566143
18	POLR2A	chr11:85565275-85566315	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F6	chr11:85565428-85566710	H1-hESC	embryonic stem cell:	n/a	chr11:85565985-85565996 chr11:85566018-85566027 chr11:85565984-85565996
20	YY1	chr11:85565425-85566370	H1-hESC	embryonic stem cell:	n/a	chr11:85566015-85566029 chr11:85566101-85566112 chr11:85566015-85566024 chr11:85566018-85566027 chr11:85565688-85565698
21	REST	chr11:85565382-85566040	HL-60	blood:	n/a	chr11:85566027-85566040
22	POLR2A	chr11:85565411-85566304	HL-60	blood:	n/a	n/a
23	MXI1	chr11:85565352-85566622	IMR90	lung:	n/a	chr11:85566132-85566147 chr11:85566134-85566149
24	FOSL2	chr11:85565286-85566168	A549	lung:	n/a	chr11:85565520-85565529
25	HCFC1	chr11:85565376-85566416	Hela-S3	cervix:	n/a	n/a
26	CTBP2	chr11:85565447-85566579	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr11:85565353-85565847	GM12892	blood:	n/a	chr11:85565688-85565698
28	MAX	chr11:85565399-85566388	A549	lung:	n/a	chr11:85566134-85566143
29	YY1	chr11:85565368-85566031	HepG2	liver:	n/a	chr11:85566015-85566029 chr11:85566015-85566024 chr11:85566018-85566027 chr11:85565688-85565698
30	YY1	chr11:85565317-85566308	GM12878	blood:	n/a	chr11:85566015-85566029 chr11:85566101-85566112 chr11:85566015-85566024 chr11:85566018-85566027 chr11:85565688-85565698
31	MAX	chr11:85565444-85566490	MCF-7	breast:	n/a	chr11:85566134-85566143

No.	Distal block	Cell Line	Cell type
1	chr11:85564358..85567668-chr11:85954757..85957283,3	MCF-7	breast:
2	chr11:85519803..85521941-chr11:85564201..85565920,2	MCF-7	breast:
3	chr11:85555610..85557343-chr11:85563252..85565662,2	MCF-7	breast:
4	chr11:85520161..85523649-chr11:85564385..85567428,4	MCF-7	breast:

Variant related genes	Relation type
CCDC83	TF binding region
ENSG00000137501	Chromatin interaction
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11826218	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828105	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445500	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445501	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445503	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1445504	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1445505	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1445511	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744675	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17744699	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17744711	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17817230	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17817254	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17817308	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17817314	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17817326	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17817331	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17817343	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17817355	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2044390	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34106192	0.91[AMR][1000 genomes]
rs4015260	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296062	1.00[ASN][1000 genomes]
rs55836023	0.81[AMR][1000 genomes]
rs55951560	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55978615	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56036199	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56202113	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56261432	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56396016	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59179556	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60135492	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102361	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7121363	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127478	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127501	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7127873	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931698	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931771	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943104	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950738	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895256	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1047147	chr11:85459235-85594800	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv541114	chr11:85459235-85594800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv898051	chr11:85554057-85620823	Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85562000-85565600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:85563600-85565600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:85563600-85565600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:85563600-85565600	Weak transcription	Pancreas	Pancrea
5	chr11:85564200-85565600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:85564800-85566200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:85565000-85566000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:85565000-85566400	Active TSS	Fetal Lung	lung
9	chr11:85565000-85566400	Active TSS	Ovary	ovary
10	chr11:85565000-85566400	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:85565000-85566800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:85565200-85565600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr11:85565200-85565600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr11:85565200-85565600	Flanking Active TSS	Osteobl	bone
15	chr11:85565200-85565800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr11:85565200-85565800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr11:85565200-85565800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr11:85565200-85565800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:85565200-85565800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:85565200-85565800	Flanking Active TSS	HUVEC	blood vessel
21	chr11:85565200-85566200	Active TSS	Primary T cells from cord blood	blood
22	chr11:85565200-85566200	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr11:85565200-85566200	Active TSS	Fetal Intestine Small	intestine
24	chr11:85565200-85566200	Active TSS	Fetal Muscle Leg	muscle
25	chr11:85565200-85566400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:85565200-85566400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:85565200-85566400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:85565200-85566400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:85565200-85566400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr11:85565200-85566400	Active TSS	Fetal Kidney	kidney
31	chr11:85565200-85566400	Active TSS	Fetal Stomach	stomach
32	chr11:85565200-85566400	Active TSS	A549	lung
33	chr11:85565200-85566400	Active TSS	NHLF	lung
34	chr11:85565200-85566600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr11:85565200-85566600	Flanking Active TSS	HMEC	breast
36	chr11:85565200-85566800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:85565400-85565600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:85565400-85565600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:85565400-85565600	Active TSS	Primary T cells fromperipheralblood	blood
40	chr11:85565400-85565600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:85565400-85565600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr11:85565400-85565600	Active TSS	Colonic Mucosa	Colon
43	chr11:85565400-85565600	Active TSS	HepG2	liver
44	chr11:85565400-85565800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:85565400-85565800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:85565400-85565800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr11:85565400-85565800	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr11:85565400-85565800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:85565400-85565800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:85565400-85565800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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