Variant report

Variant	rs2236971
Chromosome Location	chr3:50473349-50473350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:50473157..50474126-chr3:50579445..50580285,9	MCF-7	breast:
2	chr3:50374572..50376735-chr3:50471346..50473701,3	K562	blood:
3	chr3:50473271..50474185-chr3:50579555..50580461,5	K562	blood:
4	chr3:50456429..50459348-chr3:50470888..50473813,2	MCF-7	breast:
5	chr3:50471606..50474364-chr3:50476758..50479663,3	K562	blood:
6	chr3:50473196..50473698-chr3:50588986..50589944,2	K562	blood:
7	chr3:50473195..50474158-chr3:50582352..50583122,3	MCF-7	breast:
8	chr3:50473174..50474192-chr3:50587267..50588221,5	K562	blood:
9	chr3:50386862..50388722-chr3:50472468..50474330,2	MCF-7	breast:
10	chr3:50472878..50473722-chr3:50651256..50652161,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000068028	Chromatin interaction
ENSG00000202322	Chromatin interaction
ENSG00000114388	Chromatin interaction
ENSG00000114395	Chromatin interaction
ENSG00000272104	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1107265	0.92[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs11130250	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12490042	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12492113	0.84[CEU][hapmap];0.94[AMR][1000 genomes]
rs13087550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13099869	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2027854	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2073496	0.81[EUR][1000 genomes]
rs2236950	0.86[AMR][1000 genomes]
rs2236953	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2236954	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2236955	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2236956	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2236957	0.93[CEU][hapmap]
rs2236958	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2236959	0.93[CEU][hapmap]
rs2236961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2236962	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2236963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2236964	0.92[CEU][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs2236965	0.92[CEU][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs2236967	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236973	0.92[CEU][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs2236975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236979	0.92[CEU][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs2236981	0.87[EUR][1000 genomes]
rs2236983	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2236984	0.92[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs2236987	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2236988	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2282752	0.92[CEU][hapmap]
rs2282753	0.92[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs2282754	0.92[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs2282756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2282758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282760	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2282762	0.82[EUR][1000 genomes]
rs2298955	0.92[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34762184	0.85[CEU][hapmap]
rs35986136	0.85[CEU][hapmap]
rs4688719	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4688720	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs628081	0.80[CEU][hapmap]
rs6446206	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6787890	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6788459	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6792502	0.80[CEU][hapmap]
rs6807916	0.86[CEU][hapmap]
rs71326932	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs734767	0.92[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs743756	0.92[CEU][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs743757	0.92[CEU][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs743857	0.92[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs762895	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs762897	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs762898	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs763030	0.80[CEU][hapmap]
rs8180034	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs916217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs929047	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9835537	0.92[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs9867588	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh 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	99 gene(s)	inside rSNPs	diseases
6	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
8	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
10	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
11	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
12	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	esv3445182	chr3:50458687-50496660	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50465600-50485800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:50465800-50487000	Weak transcription	Fetal Intestine Small	intestine
3	chr3:50468200-50473400	Weak transcription	Right Ventricle	heart
4	chr3:50468200-50474600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:50468800-50478800	Weak transcription	Fetal Lung	lung
6	chr3:50468800-50480200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:50469000-50475800	Weak transcription	Brain Anterior Caudate	brain
8	chr3:50469200-50473400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:50469800-50473400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:50470200-50479000	Weak transcription	Left Ventricle	heart
11	chr3:50471200-50479800	Enhancers	Fetal Heart	heart
12	chr3:50471400-50474200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr3:50471600-50479600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr3:50471800-50474000	Enhancers	Fetal Thymus	thymus
15	chr3:50471800-50475200	Weak transcription	Spleen	Spleen
16	chr3:50471800-50477800	Weak transcription	Gastric	stomach
17	chr3:50472000-50474400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr3:50472000-50475400	Weak transcription	Lung	lung
19	chr3:50472200-50473800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:50472200-50473800	Weak transcription	Right Atrium	heart
21	chr3:50472200-50477000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:50472400-50473800	Bivalent Enhancer	Fetal Brain Male	brain
23	chr3:50472400-50474000	Enhancers	Brain Germinal Matrix	brain
24	chr3:50472600-50473400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr3:50472600-50473600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:50472600-50473600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:50472600-50474000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:50472800-50473800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:50472800-50474000	Enhancers	K562	blood
30	chr3:50473000-50473400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:50473000-50473600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr3:50473200-50473600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:50473200-50473600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:50473200-50473600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:50473200-50477800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr3:50473200-50483800	Enhancers	Fetal Muscle Leg	muscle

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