Variant report

Variant	rs1111527
Chromosome Location	chr2:85977658-85977659
allele	A/C
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	CTCF	chr2:85977626-85977953	T-47D	breast:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
2	RAD21	chr2:85977543-85978104	HepG2	liver:	n/a	chr2:85977801-85977820
3	CTCF	chr2:85977505-85978064	A549	lung:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
4	SIX5	chr2:85977497-85978288	A549	lung:	n/a	n/a
5	RAD21	chr2:85977551-85978049	SK-N-SH_RA	brain:	n/a	chr2:85977801-85977820
6	RAD21	chr2:85977535-85978092	A549	lung:	n/a	chr2:85977801-85977820
7	RAD21	chr2:85977538-85978048	ECC-1	luminal epithelium:	n/a	chr2:85977801-85977820
8	RAD21	chr2:85977514-85978201	ECC-1	luminal epithelium:	n/a	chr2:85977801-85977820
9	SMC3	chr2:85977633-85977971	GM12878	blood:	n/a	chr2:85977802-85977810 chr2:85977802-85977816
10	RAD21	chr2:85977185-85978407	SK-N-SH	brain:	n/a	chr2:85977801-85977820
11	CTCF	chr2:85977317-85978207	HCT-116	colon:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
12	CTCF	chr2:85977623-85977990	GM12878	blood:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
13	SMC3	chr2:85977587-85978243	Hela-S3	cervix:	n/a	chr2:85977802-85977810 chr2:85977802-85977816
14	SMC3	chr2:85977504-85978019	HepG2	liver:	n/a	chr2:85977802-85977810 chr2:85977802-85977816
15	RAD21	chr2:85977505-85978053	H1-hESC	embryonic stem cell:	n/a	chr2:85977801-85977820
16	RAD21	chr2:85977476-85978219	HCT-116	colon:	n/a	chr2:85977801-85977820
17	CTCF	chr2:85977617-85977998	K562	blood:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
18	RAD21	chr2:85977569-85978057	HepG2	liver:	n/a	chr2:85977801-85977820
19	CTCF	chr2:85977409-85978141	HCT-116	colon:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
20	RAD21	chr2:85977613-85978005	H1-hESC	embryonic stem cell:	n/a	chr2:85977801-85977820
21	RAD21	chr2:85977624-85977998	SK-N-SH_RA	brain:	n/a	chr2:85977801-85977820
22	CTCF	chr2:85977587-85978012	A549	lung:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
23	CTCF	chr2:85977574-85977994	H1-hESC	embryonic stem cell:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
24	RAD21	chr2:85977533-85978188	MCF-7	breast:	n/a	chr2:85977801-85977820
25	CTCF	chr2:85977289-85978286	SK-N-SH	brain:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
26	CTCF	chr2:85977502-85978072	MCF-7	breast:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
27	SMC3	chr2:85977646-85977973	K562	blood:	n/a	chr2:85977802-85977810 chr2:85977802-85977816
28	CTCF	chr2:85977248-85978410	A549	lung:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
29	CTCF	chr2:85977559-85978076	MCF-7	breast:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
30	RAD21	chr2:85977415-85978272	HCT-116	colon:	n/a	chr2:85977801-85977820
31	CTCF	chr2:85977587-85978006	IMR90	lung:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
32	CTCF	chr2:85977597-85977904	SK-N-SH_RA	brain:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
33	CTCF	chr2:85977578-85977987	A549	lung:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
34	GTF2F1	chr2:85977613-85977837	Hela-S3	cervix:	n/a	n/a
35	MAX	chr2:85977618-85977959	NB4	blood:	n/a	n/a
36	SIN3AK20	chr2:85977536-85978038	A549	lung:	n/a	n/a
37	CTCF	chr2:85977641-85977958	HUVEC	blood vessel:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
38	CTCF	chr2:85977454-85977922	HepG2	liver:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
39	SPI1	chr2:85977554-85978081	HL-60	blood:	n/a	chr2:85977752-85977761
40	CTCF	chr2:85977629-85977934	K562	blood:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
41	CTCF	chr2:85977604-85978015	A549	lung:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
42	CTCF	chr2:85977608-85977951	T-47D	breast:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
43	RAD21	chr2:85977636-85977920	K562	blood:	n/a	chr2:85977801-85977820
44	SMC3	chr2:85977297-85978602	SK-N-SH	brain:	n/a	chr2:85977802-85977810 chr2:85977802-85977816
45	CTCF	chr2:85977564-85978037	H1-hESC	embryonic stem cell:	n/a	chr2:85977803-85977812 chr2:85977803-85977816 chr2:85977801-85977817 chr2:85977805-85977815 chr2:85977802-85977823 chr2:85977800-85977818
46	RAD21	chr2:85977498-85978118	MCF-7	breast:	n/a	chr2:85977801-85977820
47	RAD21	chr2:85977598-85978097	HepG2	liver:	n/a	chr2:85977801-85977820
48	RAD21	chr2:85977609-85978025	Hela-S3	cervix:	n/a	chr2:85977801-85977820
49	RAD21	chr2:85977621-85978031	A549	lung:	n/a	chr2:85977801-85977820
50	TCF12	chr2:85977318-85978427	A549	lung:	n/a	chr2:85978299-85978309 chr2:85977820-85977830

No.	Distal block	Cell Line	Cell type
1	chr2:85976745..85979342-chr2:85979775..85983018,3	K562	blood:
2	chr2:85976940..85977835-chr2:85988194..85989005,2	K562	blood:
3	chr2:85971643..85974209-chr2:85976098..85978084,3	MCF-7	breast:
4	chr2:85977427..85978425-chr2:86024880..86025694,8	MCF-7	breast:
5	chr2:85955784..85956751-chr2:85977453..85978247,3	MCF-7	breast:
6	chr2:85977304..85978300-chr2:86041004..86041953,11	MCF-7	breast:
7	chr2:85977326..85978260-chr2:86024538..86025326,2	MCF-7	breast:
8	chr2:85977362..85978288-chr2:86031431..86032387,4	K562	blood:
9	chr2:85976672..85979342-chr2:85979775..85983871,4	K562	blood:

Variant related genes	Relation type
ATOH8	TF binding region
ENSG00000168874	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10172667	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs11126998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1356621	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1356622	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1356623	1.00[CEU][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1356624	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1465822	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568310	0.93[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2118401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366816	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832007	0.93[CEU][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.83[ASN][1000 genomes]
rs4832008	0.93[CEU][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4832190	0.93[CEU][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs4832191	0.87[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs732155	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7557287	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567852	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85971600-85977800	Weak transcription	Pancreas	Pancrea
2	chr2:85972400-85978200	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:85972800-85977800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:85973000-85977800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:85973000-85979000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:85973400-85980200	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr2:85973800-85977800	Weak transcription	Esophagus	oesophagus
8	chr2:85974800-85980400	Enhancers	Fetal Heart	heart
9	chr2:85975000-85978000	Enhancers	Adipose Nuclei	Adipose
10	chr2:85975200-85979400	Enhancers	Fetal Lung	lung
11	chr2:85975600-85979800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:85975600-85980000	Enhancers	Brain Substantia Nigra	brain
13	chr2:85975800-85978800	Enhancers	Hela-S3	cervix
14	chr2:85975800-85979600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:85975800-85980000	Enhancers	HSMM	muscle
16	chr2:85975800-85980400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:85976000-85978600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr2:85976000-85978800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:85976000-85979600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:85976000-85979800	Enhancers	Brain Hippocampus Middle	brain
21	chr2:85976000-85979800	Enhancers	A549	lung
22	chr2:85976600-85977800	Weak transcription	Liver	Liver
23	chr2:85976600-85977800	Weak transcription	Brain Angular Gyrus	brain
24	chr2:85976600-85977800	Weak transcription	Spleen	Spleen
25	chr2:85976600-85979000	Enhancers	HSMMtube	muscle
26	chr2:85976600-85980200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:85976800-85977800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:85976800-85977800	Weak transcription	Primary B cells from cord blood	blood
29	chr2:85976800-85977800	Weak transcription	Ovary	ovary
30	chr2:85976800-85977800	Weak transcription	Right Atrium	heart
31	chr2:85976800-85977800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:85976800-85977800	Weak transcription	Stomach Mucosa	stomach
33	chr2:85976800-85977800	Weak transcription	NHLF	lung
34	chr2:85976800-85978000	Weak transcription	Brain Anterior Caudate	brain
35	chr2:85976800-85978200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:85976800-85978200	Enhancers	Stomach Smooth Muscle	stomach
37	chr2:85976800-85979000	Enhancers	Colon Smooth Muscle	Colon
38	chr2:85977000-85980000	Weak transcription	Gastric	stomach
39	chr2:85977000-85980200	Weak transcription	Aorta	Aorta
40	chr2:85977400-85980000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:85977600-85978600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:85977600-85978600	Enhancers	Psoas Muscle	Psoas
43	chr2:85977600-85978600	Enhancers	Osteobl	bone
44	chr2:85977600-85978800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:85977600-85979000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:85977600-85979000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:85977600-85979400	Enhancers	NHDF-Ad	bronchial
48	chr2:85977600-85980200	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:85977600-85980200	Enhancers	Left Ventricle	heart
50	chr2:85977600-85980200	Enhancers	Right Ventricle	heart

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