Variant report

Variant	rs17027017
Chromosome Location	chr2:86420895-86420896
allele	A/G
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	CHD1	chr2:86420878-86423375	IMR90	lung:	n/a	chr2:86422993-86423000
2	ARID3A	chr2:86420713-86420987	K562	blood:	n/a	n/a
3	E2F4	chr2:86420890-86420974	MCF10A-Er-Src	breast:	n/a	n/a
4	RFX5	chr2:86420697-86423562	SK-N-SH	brain:	n/a	chr2:86423175-86423190 chr2:86423174-86423191 chr2:86421537-86421551 chr2:86423175-86423190

No.	Distal block	Cell Line	Cell type
1	chr2:86332345..86334570-chr2:86419598..86423755,4	MCF-7	breast:
2	chr2:86398980..86401652-chr2:86420774..86422629,2	K562	blood:
3	chr2:86329731..86334667-chr2:86420655..86424478,8	K562	blood:
4	chr2:86420213..86424453-chr2:86424933..86430971,16	MCF-7	breast:
5	chr2:86330519..86334714-chr2:86420374..86424108,6	K562	blood:

Variant related genes	Relation type
ENSG00000273080	TF binding region
MIR4779	TF binding region
ENSG00000132313	Chromatin interaction
ENSG00000132300	Chromatin interaction
ENSG00000068654	Chromatin interaction
ENSG00000132305	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10185778	1.00[EUR][1000 genomes]
rs1124687	1.00[EUR][1000 genomes]
rs11845	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11884765	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891306	1.00[EUR][1000 genomes]
rs11891814	1.00[EUR][1000 genomes]
rs11901601	1.00[EUR][1000 genomes]
rs11902617	1.00[EUR][1000 genomes]
rs17026940	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17027032	1.00[EUR][1000 genomes]
rs2228352	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2241434	1.00[YRI][hapmap]
rs57252871	0.84[AFR][1000 genomes]
rs6723248	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6724856	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs6734409	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs725047	1.00[EUR][1000 genomes]
rs72934506	1.00[EUR][1000 genomes]
rs7592378	1.00[YRI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv458574	chr2:86385728-86507688	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv582372	chr2:86385728-86507688	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86390400-86421200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:86404000-86421200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:86406000-86421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:86407000-86421200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:86407200-86421000	Weak transcription	Small Intestine	intestine
6	chr2:86407200-86421200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:86408400-86421000	Weak transcription	Brain Germinal Matrix	brain
8	chr2:86408600-86421000	Weak transcription	Fetal Intestine Large	intestine
9	chr2:86408600-86421200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:86411600-86421200	Weak transcription	Aorta	Aorta
11	chr2:86412400-86421000	Weak transcription	Right Atrium	heart
12	chr2:86413800-86421000	Weak transcription	Brain Angular Gyrus	brain
13	chr2:86413800-86421000	Weak transcription	Gastric	stomach
14	chr2:86414000-86421000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:86414000-86421000	Weak transcription	Colonic Mucosa	Colon
16	chr2:86414200-86421200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:86414400-86421200	Weak transcription	Fetal Kidney	kidney
18	chr2:86416600-86421000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:86416800-86421200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:86417000-86421000	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:86417400-86421200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:86417600-86421000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:86417600-86421000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:86417800-86421000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:86417800-86421000	Weak transcription	Primary B cells from cord blood	blood
26	chr2:86417800-86421000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:86417800-86421000	Weak transcription	Fetal Brain Male	brain
28	chr2:86417800-86421000	Weak transcription	Placenta	Placenta
29	chr2:86417800-86421000	Weak transcription	HSMM	muscle
30	chr2:86417800-86421200	Enhancers	Right Ventricle	heart
31	chr2:86418000-86421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:86418200-86421200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:86418200-86421200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:86418400-86421200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:86418400-86421400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr2:86418800-86421000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:86418800-86421000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:86418800-86421200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:86418800-86421200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:86418800-86421800	Weak transcription	Lung	lung
41	chr2:86419200-86421200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:86419200-86421400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr2:86419200-86422000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:86419400-86421000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr2:86419400-86421000	Weak transcription	Left Ventricle	heart
46	chr2:86419400-86421000	Weak transcription	Pancreas	Pancrea
47	chr2:86419400-86421000	Weak transcription	Spleen	Spleen
48	chr2:86419400-86421200	Weak transcription	Ovary	ovary
49	chr2:86419600-86421000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:86419600-86421000	Enhancers	Duodenum Smooth Muscle	Duodenum

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