Variant report

Variant	rs2044136
Chromosome Location	chr11:4206126-4206127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr11:4205505-4206136	K562	blood:	n/a	n/a
2	MAZ	chr11:4205855-4206270	K562	blood:	n/a	n/a
3	CCNT2	chr11:4205703-4206232	K562	blood:	n/a	n/a
4	ZNF384	chr11:4205735-4206143	K562	blood:	n/a	n/a
5	JUND	chr11:4205404-4206259	K562	blood:	n/a	n/a
6	MAX	chr11:4205750-4206181	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4206098-4206148	BE2_C	brain:	n/a
2	chr11:4206098-4206148	AG09319	gingival:	n/a
3	chr11:4206098-4206148	AG04449	skin:	fetal
4	chr11:4206098-4206148	NH-A	brain:	n/a
5	chr11:4206098-4206148	AG09309	skin:	n/a
6	chr11:4206098-4206148	SK-N-SH	brain:	n/a
7	chr11:4206098-4206148	HCT-116	colon:	n/a
8	chr11:4206098-4206148	Caco-2	colon:	n/a
9	chr11:4206098-4206148	PrEC	prostate:	n/a
10	chr11:4206098-4206148	HAEpiC	amniotic membrane:	n/a
11	chr11:4206098-4206148	HMEC	breast:	n/a
12	chr11:4206098-4206148	LNCaP	prostate:	n/a
13	chr11:4206098-4206148	AG04450	lung:	fetal
14	chr11:4206098-4206148	Hepatocyte	liver:	n/a
15	chr11:4206098-4206148	AoSMC	blood vessel:	n/a
16	chr11:4206098-4206148	IMR90	lung:	fetal
17	chr11:4206098-4206148	SK-N-MC	brain:	n/a
18	chr11:4206098-4206148	SKMC	muscle:	n/a
19	chr11:4206098-4206148	MCF10A-Er-Src	breast:	n/a
20	chr11:4206098-4206148	ProgFib	skin:	n/a
21	chr11:4206098-4206148	Jurkat	blood:	n/a
22	chr11:4206098-4206148	T-47D	breast:	n/a
23	chr11:4206098-4206148	NB4	blood:	n/a
24	chr11:4206098-4206148	GM12878	blood:	n/a
25	chr11:4206098-4206148	MCF-7	breast:	n/a
26	chr11:4206098-4206148	GM12891	blood:	n/a
27	chr11:4206098-4206148	GM12892	blood:	n/a
28	chr11:4206098-4206148	A549	lung:	n/a
29	chr11:4206098-4206148	HIPEpiC	eye:	n/a
30	chr11:4206098-4206148	NHDF-neo	bronchial:	n/a
31	chr11:4206098-4206148	HEEpiC	esophagus:	n/a
32	chr11:4206098-4206148	GM06990	blood:	n/a
33	chr11:4206098-4206148	HCM	heart:	n/a
34	chr11:4206098-4206148	HRE	kidney:	n/a
35	chr11:4206098-4206148	U87	brain:	n/a
36	chr11:4206098-4206148	PANC-1	pancreas:	n/a
37	chr11:4206098-4206148	HepG2	liver:	n/a
38	chr11:4206098-4206148	RPTEC	kidney:	n/a
39	chr11:4206098-4206148	HCPEpiC	choroid plexus:	n/a
40	chr11:4206098-4206148	AG10803	skin:	n/a
41	chr11:4206098-4206148	HRCEpiC	kidney:	n/a
42	chr11:4206098-4206148	BJ	skin:	n/a
43	chr11:4206098-4206148	NHBE	bronchial:	n/a
44	chr11:4206098-4206148	ovcar-3	ovarian:	n/a
45	chr11:4206098-4206148	ECC-1	luminal epithelium:	n/a
46	chr11:4206098-4206148	GM19239	blood:	n/a
47	chr11:4206098-4206148	PFSK-1	brain:	n/a
48	chr11:4206098-4206148	HRPEpiC	eye:	n/a
49	chr11:4206098-4206148	SK-N-SH_RA	brain:	n/a
50	chr11:4206098-4206148	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4204877..4207550-chr11:4212628..4215055,2	K562	blood:
2	chr11:4205317..4208248-chr11:4208372..4210447,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254480	TF binding region
ENSG00000254480	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11820278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11821250	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11821318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11825785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11826962	1.00[AMR][1000 genomes]
rs11826975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4335537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4598667	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7479908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs930491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1053189	chr11:4123119-4359044	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1048590	chr11:4133055-4225100	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv540911	chr11:4133055-4225100	Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1053482	chr11:4138062-4276133	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3380413	chr11:4159374-4323846	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv8777	chr11:4159953-4387268	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1045527	chr11:4162019-4225100	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv34983	chr11:4162474-4325792	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv2757417	chr11:4162477-4325792	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv818795	chr11:4167416-4238930	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv467662	chr11:4185595-4272343	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv553151	chr11:4185595-4272343	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv469627	chr11:4186981-4336490	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv482725	chr11:4186981-4336490	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv428799	chr11:4186981-4336490	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv471670	chr11:4186982-4336490	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv467663	chr11:4188188-4238930	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv553152	chr11:4188188-4238930	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv469932	chr11:4200169-4272343	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4197600-4208200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:4197600-4208200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:4200000-4208200	Enhancers	Liver	Liver
4	chr11:4205400-4206200	Enhancers	Right Ventricle	heart
5	chr11:4205400-4206400	Enhancers	Colon Smooth Muscle	Colon
6	chr11:4205400-4206400	Enhancers	K562	blood
7	chr11:4205400-4206800	Enhancers	Fetal Heart	heart
8	chr11:4205600-4208000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:4205800-4206200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:4205800-4209000	Weak transcription	Fetal Lung	lung

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