Variant report

Variant	rs2044393
Chromosome Location	chr11:85522607-85522608
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr11:85521906-85522656	MCF-7	breast:	n/a	chr11:85522198-85522207 chr11:85522223-85522233 chr11:85522219-85522232
2	TAF1	chr11:85521398-85522694	MCF-7	breast:	n/a	n/a
3	E2F6	chr11:85521767-85522923	H1-hESC	embryonic stem cell:	n/a	chr11:85522224-85522233
4	MAX	chr11:85521781-85522700	MCF-7	breast:	n/a	n/a
5	MAX	chr11:85522079-85522664	A549	lung:	n/a	n/a
6	E2F6	chr11:85521864-85522784	H1-hESC	embryonic stem cell:	n/a	chr11:85522224-85522233
7	EGR1	chr11:85521991-85522639	H1-hESC	embryonic stem cell:	n/a	chr11:85522198-85522207 chr11:85522223-85522233 chr11:85522219-85522232
8	YY1	chr11:85521904-85522691	H1-hESC	embryonic stem cell:	n/a	chr11:85522079-85522090 chr11:85522086-85522100 chr11:85522224-85522233
9	MAX	chr11:85521850-85522626	HepG2	liver:	n/a	n/a
10	MAX	chr11:85521772-85522663	HCT-116	colon:	n/a	n/a
11	E2F6	chr11:85521873-85522844	A549	lung:	n/a	chr11:85522224-85522233
12	MAX	chr11:85521647-85522954	A549	lung:	n/a	n/a
13	MAX	chr11:85521956-85522820	H1-hESC	embryonic stem cell:	n/a	n/a
14	EGR1	chr11:85522159-85522634	ECC-1	luminal epithelium:	n/a	chr11:85522198-85522207 chr11:85522223-85522233 chr11:85522219-85522232
15	POLR2A	chr11:85521772-85522616	PANC-1	pancreas:	n/a	n/a
16	MAX	chr11:85521755-85522695	A549	lung:	n/a	n/a
17	SIN3AK20	chr11:85519933-85522857	MCF-7	breast:	n/a	n/a
18	ZNF263	chr11:85521867-85522803	HEK293-T-REx	kidney:	n/a	n/a
19	MAX	chr11:85521770-85522664	MCF-7	breast:	n/a	n/a
20	MAX	chr11:85521719-85522821	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr11:85521760-85522752	ECC-1	luminal epithelium:	n/a	n/a
22	SIN3AK20	chr11:85519876-85522926	MCF-7	breast:	n/a	n/a
23	SIN3A	chr11:85521588-85522837	H1-hESC	embryonic stem cell:	n/a	chr11:85522079-85522090
24	POLR2A	chr11:85522236-85522614	H1-neurons	neurons:	n/a	n/a
25	TCF12	chr11:85521752-85522722	A549	lung:	n/a	n/a
26	HA-E2F1	chr11:85521536-85522784	MCF-7	breast:	n/a	chr11:85522224-85522233
27	MXI1	chr11:85521595-85522905	IMR90	lung:	n/a	n/a
28	MAX	chr11:85521765-85522640	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr11:85520761-85522656	MCF-7	breast:	n/a	n/a
30	MAX	chr11:85521856-85522852	H1-hESC	embryonic stem cell:	n/a	n/a
31	EGR1	chr11:85522042-85522640	ECC-1	luminal epithelium:	n/a	chr11:85522198-85522207 chr11:85522223-85522233 chr11:85522219-85522232
32	MAZ	chr11:85520737-85522769	IMR90	lung:	n/a	n/a
33	MXI1	chr11:85521637-85522789	SK-N-SH	brain:	n/a	n/a
34	CTBP2	chr11:85521619-85522846	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:85522575-85522625	ECC-1	luminal epithelium:	n/a
2	chr11:85522575-85522625	BE2_C	brain:	n/a
3	chr11:85522575-85522625	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:85522575-85522625	GM12892	blood:	n/a
5	chr11:85522575-85522625	U87	brain:	n/a
6	chr11:85522575-85522625	CMK	blood:	n/a
7	chr11:85522575-85522625	GM19239	blood:	n/a
8	chr11:85522575-85522625	PFSK-1	brain:	n/a
9	chr11:85522575-85522625	HMEC	breast:	n/a
10	chr11:85522575-85522625	IMR90	lung:	fetal
11	chr11:85522575-85522625	BJ	skin:	n/a
12	chr11:85522575-85522625	AG09309	skin:	n/a
13	chr11:85522575-85522625	NH-A	brain:	n/a
14	chr11:85522575-85522625	HEK293	kidney:	embryo
15	chr11:85522575-85522625	HL-60	blood:	n/a
16	chr11:85522575-85522625	GM12891	blood:	n/a
17	chr11:85522575-85522625	NHDF-neo	bronchial:	n/a
18	chr11:85522575-85522625	SK-N-SH	brain:	n/a
19	chr11:85522575-85522625	AG04449	skin:	fetal
20	chr11:85522575-85522625	GM12878	blood:	n/a
21	chr11:85522575-85522625	ProgFib	skin:	n/a
22	chr11:85522575-85522625	LNCaP	prostate:	n/a
23	chr11:85522575-85522625	SAEC	small airway:	n/a
24	chr11:85522575-85522625	T-47D	breast:	n/a
25	chr11:85522575-85522625	NT2-D1	testis:	n/a
26	chr11:85522575-85522625	PANC-1	pancreas:	n/a
27	chr11:85522575-85522625	MCF-7	breast:	n/a
28	chr11:85522575-85522625	HIPEpiC	eye:	n/a
29	chr11:85522575-85522625	HUVEC	blood vessel:	n/a
30	chr11:85522575-85522625	HCF	heart:	n/a
31	chr11:85522575-85522625	RPTEC	kidney:	n/a
32	chr11:85522575-85522625	SK-N-MC	brain:	n/a
33	chr11:85522575-85522625	PrEC	prostate:	n/a
34	chr11:85522575-85522625	HRCEpiC	kidney:	n/a
35	chr11:85522575-85522625	AG09319	gingival:	n/a
36	chr11:85522575-85522625	HepG2	liver:	n/a
37	chr11:85522575-85522625	HEEpiC	esophagus:	n/a
38	chr11:85522575-85522625	GM06990	blood:	n/a
39	chr11:85522575-85522625	A549	lung:	n/a
40	chr11:85522575-85522625	NHBE	bronchial:	n/a
41	chr11:85522575-85522625	HAEpiC	amniotic membrane:	n/a
42	chr11:85522575-85522625	H1-hESC	embryonic stem cell:	embryo
43	chr11:85522575-85522625	Hepatocyte	liver:	n/a
44	chr11:85522575-85522625	NB4	blood:	n/a
45	chr11:85522575-85522625	Caco-2	colon:	n/a
46	chr11:85522575-85522625	HCM	heart:	n/a
47	chr11:85522575-85522625	HCPEpiC	choroid plexus:	n/a
48	chr11:85522575-85522625	Jurkat	blood:	n/a
49	chr11:85522575-85522625	AG10803	skin:	n/a
50	chr11:85522575-85522625	HCT-116	colon:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85374332..85377604-chr11:85518032..85524824,7	MCF-7	breast:
2	chr11:85520588..85523121-chr11:85904931..85907542,2	MCF-7	breast:
3	chr11:85520681..85523600-chr11:85778386..85780657,2	MCF-7	breast:
4	chr11:85468435..85470460-chr11:85522182..85523762,2	MCF-7	breast:
5	chr11:85520161..85523649-chr11:85564385..85567428,4	MCF-7	breast:
6	chr11:85434348..85438681-chr11:85520824..85523815,4	MCF-7	breast:

No data

Variant related genes	Relation type
SYTL2	TF binding region
SYTL2	CpG island
ENSG00000254502	Chromatin interaction
ENSG00000150676	Chromatin interaction
ENSG00000137504	Chromatin interaction
ENSG00000137501	Chromatin interaction
ENSG00000215504	Chromatin interaction
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1043858	1.00[CEU][hapmap]
rs10501597	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10898409	0.82[ASN][1000 genomes]
rs11234386	1.00[EUR][1000 genomes]
rs11234387	1.00[EUR][1000 genomes]
rs11234388	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11234389	1.00[CHB][hapmap]
rs11234390	1.00[EUR][1000 genomes]
rs11234391	1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs11234392	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11234393	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11234395	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11234397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11234404	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11234408	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11234409	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234413	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234415	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11234416	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11234418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11607789	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs12286030	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12286043	0.89[ASN][1000 genomes]
rs12286206	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12365370	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17148355	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs17148514	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs17208525	1.00[CHB][hapmap]
rs17208602	1.00[CHB][hapmap]
rs17208616	1.00[CHB][hapmap]
rs17209127	1.00[CEU][hapmap]
rs17810701	1.00[CHB][hapmap]
rs17810766	1.00[CHB][hapmap]
rs17810802	1.00[CHB][hapmap]
rs17810855	1.00[CHB][hapmap]
rs17811120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276018	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs2304342	1.00[CHB][hapmap]
rs2304343	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs36035618	1.00[AFR][1000 genomes]
rs3891432	1.00[EUR][1000 genomes]
rs678376	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv2762927	chr11:85468051-85559618	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1052737	chr11:85477084-85554914	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv541115	chr11:85477084-85554914	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1049630	chr11:85486866-85535123	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85520400-85522800	Bivalent/Poised TSS	Thymus	Thymus
2	chr11:85520600-85523600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:85520800-85522800	Active TSS	Fetal Kidney	kidney
4	chr11:85520800-85523000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:85521000-85522800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:85521000-85522800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr11:85521000-85522800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:85521000-85522800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:85521000-85522800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:85521000-85522800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:85521000-85523000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:85521000-85523000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:85521200-85522800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr11:85521200-85522800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr11:85521200-85522800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr11:85521200-85522800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:85521200-85522800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr11:85521200-85522800	Active TSS	Ovary	ovary
19	chr11:85521200-85522800	Active TSS	NHLF	lung
20	chr11:85521200-85523000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr11:85521400-85522800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr11:85521400-85522800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:85521600-85522800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr11:85521600-85522800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:85521600-85522800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:85521600-85522800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:85521600-85522800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:85521600-85522800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr11:85521600-85522800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr11:85521600-85522800	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr11:85521600-85523000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:85521600-85523000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr11:85521600-85525000	Weak transcription	Hela-S3	cervix
34	chr11:85521800-85522800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:85521800-85522800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:85521800-85522800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:85521800-85522800	Active TSS	Aorta	Aorta
38	chr11:85521800-85522800	Active TSS	Brain Angular Gyrus	brain
39	chr11:85521800-85522800	Active TSS	Colon Smooth Muscle	Colon
40	chr11:85521800-85522800	Active TSS	Fetal Heart	heart
41	chr11:85521800-85522800	Active TSS	Psoas Muscle	Psoas
42	chr11:85521800-85522800	Active TSS	A549	lung
43	chr11:85521800-85523000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:85521800-85523000	Active TSS	Rectal Smooth Muscle	rectum
45	chr11:85522000-85522800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:85522000-85522800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:85522000-85522800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr11:85522000-85522800	Active TSS	Brain Hippocampus Middle	brain
49	chr11:85522000-85522800	Bivalent/Poised TSS	Fetal Brain Female	brain
50	chr11:85522000-85522800	Active TSS	Fetal Lung	lung

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