Variant report

Variant	rs7568749
Chromosome Location	chr2:99796265-99796266
allele	A/C
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99782491..99787778-chr2:99795073..99800536,8	MCF-7	breast:
2	chr2:99767297..99778137-chr2:99793643..99800044,16	MCF-7	breast:
3	chr2:99768084..99772423-chr2:99795960..99799744,7	K562	blood:
4	chr2:99785439..99787050-chr2:99795016..99797039,2	MCF-7	breast:
5	chr2:99786426..99788030-chr2:99796073..99799242,3	K562	blood:
6	chr2:99773460..99775847-chr2:99795647..99797318,2	K562	blood:
7	chr2:99757575..99760395-chr2:99795675..99798209,3	K562	blood:
8	chr2:99767233..99772869-chr2:99793831..99799744,8	K562	blood:
9	chr2:99796217..99799127-chr2:100105224..100108883,4	K562	blood:
10	chr2:99769587..99774574-chr2:99795787..99799597,12	MCF-7	breast:
11	chr2:99755178..99760444-chr2:99795813..99800130,7	MCF-7	breast:
12	chr2:99796197..99799811-chr2:99951417..99956311,9	MCF-7	breast:
13	chr2:99796217..99798600-chr2:100104908..100107681,3	K562	blood:
14	chr2:99796004..99796993-chr2:99952947..99953690,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115514	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000135945	Chromatin interaction
ENSG00000144182	Chromatin interaction
ENSG00000273045	Chromatin interaction
ENSG00000273155	Chromatin interaction
ENSG00000135951	Chromatin interaction
ENSG00000158417	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10496334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10496335	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11123760	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11123767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123768	0.93[EUR][1000 genomes]
rs11526114	0.86[EUR][1000 genomes]
rs12233087	0.86[EUR][1000 genomes]
rs12620997	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1586434	0.86[EUR][1000 genomes]
rs17022180	0.84[ASN][1000 genomes]
rs17022249	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2277876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28785294	1.00[EUR][1000 genomes]
rs28794804	0.84[ASN][1000 genomes]
rs34751553	0.81[ASN][1000 genomes]
rs35071324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35458525	0.81[ASN][1000 genomes]
rs3762472	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4850895	0.83[ASN][1000 genomes]
rs56691336	0.81[ASN][1000 genomes]
rs56926889	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57273701	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57743480	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58595226	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58635701	0.93[EUR][1000 genomes]
rs58745514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59252741	0.83[ASN][1000 genomes]
rs59506582	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60056452	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60516303	0.84[ASN][1000 genomes]
rs60653099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6719145	0.86[EUR][1000 genomes]
rs6746969	0.86[EUR][1000 genomes]
rs6748497	0.86[EUR][1000 genomes]
rs6749198	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9752510	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1013507	chr2:99729047-99861692	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv961842	chr2:99781138-99886836	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99772400-99796400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:99772400-99796600	Weak transcription	Right Ventricle	heart
3	chr2:99772400-99796800	Weak transcription	Colonic Mucosa	Colon
4	chr2:99772400-99797000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:99772600-99796600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:99772600-99796600	Weak transcription	Fetal Kidney	kidney
7	chr2:99772600-99797000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:99772800-99796400	Weak transcription	Fetal Heart	heart
9	chr2:99773000-99796400	Weak transcription	Fetal Brain Male	brain
10	chr2:99784600-99797000	Weak transcription	Ovary	ovary
11	chr2:99785200-99796400	Weak transcription	NHEK	skin
12	chr2:99785200-99796600	Weak transcription	HSMMtube	muscle
13	chr2:99785200-99797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:99786600-99796600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:99786600-99797000	Weak transcription	Aorta	Aorta
16	chr2:99786600-99797000	Weak transcription	Esophagus	oesophagus
17	chr2:99786600-99797000	Weak transcription	Lung	lung
18	chr2:99787600-99796400	Weak transcription	HMEC	breast
19	chr2:99787600-99797000	Weak transcription	Psoas Muscle	Psoas
20	chr2:99787800-99796400	Weak transcription	NHLF	lung
21	chr2:99787800-99796600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:99789600-99796400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:99790000-99796400	Weak transcription	HSMM	muscle
24	chr2:99790200-99796400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:99790400-99796400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:99790400-99796400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:99790400-99796400	Weak transcription	Fetal Intestine Small	intestine
28	chr2:99790600-99796400	Weak transcription	NHDF-Ad	bronchial
29	chr2:99790800-99796400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:99790800-99796600	Weak transcription	Fetal Intestine Large	intestine
31	chr2:99792600-99797000	Weak transcription	Right Atrium	heart
32	chr2:99793600-99796400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr2:99794600-99796400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:99794600-99796800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:99794800-99796600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr2:99794800-99796600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr2:99794800-99796800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr2:99795000-99796400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:99795000-99796600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr2:99795000-99797000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr2:99795200-99796400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr2:99795200-99796400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:99795200-99796600	Enhancers	Brain Angular Gyrus	brain
44	chr2:99795200-99796800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:99795200-99798400	Active TSS	GM12878-XiMat	blood
46	chr2:99795400-99796400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:99795400-99796400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:99795400-99796400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr2:99795400-99796400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:99795400-99796400	Enhancers	Thymus	Thymus

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