Variant report

Variant	rs1049618
Chromosome Location	chr7:116558716-116558717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:116555776..116557295-chr7:116558008..116560317,2	MCF-7	breast:
2	chr7:116557404..116561072-chr7:116567108..116571328,4	K562	blood:
3	chr7:116555853..116558768-chr7:116563392..116564954,2	MCF-7	breast:
4	chr7:116558517..116560603-chr7:116609318..116611727,2	K562	blood:
5	chr7:116551278..116554043-chr7:116558237..116559780,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10229110	0.83[TSI][hapmap]
rs10435378	1.00[YRI][hapmap]
rs11562010	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11766819	0.82[ASW][hapmap];0.87[MEX][hapmap]
rs12154364	0.81[AMR][1000 genomes]
rs16945	1.00[YRI][hapmap]
rs183642	0.88[LWK][hapmap];1.00[YRI][hapmap]
rs193688	1.00[YRI][hapmap]
rs2023748	1.00[YRI][hapmap]
rs2237717	1.00[YRI][hapmap]
rs2299439	1.00[YRI][hapmap]
rs2402118	1.00[YRI][hapmap]
rs38859	1.00[YRI][hapmap]
rs41735	0.88[LWK][hapmap];1.00[YRI][hapmap]
rs41736	1.00[YRI][hapmap]
rs41737	1.00[YRI][hapmap]
rs41738	1.00[YRI][hapmap]
rs41739	1.00[YRI][hapmap]
rs41743	1.00[YRI][hapmap]
rs41746	1.00[YRI][hapmap]
rs41747	1.00[YRI][hapmap]
rs41774	1.00[YRI][hapmap]
rs41775	1.00[YRI][hapmap]
rs42336	1.00[YRI][hapmap]
rs4730762	1.00[YRI][hapmap]
rs56403542	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60899920	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6566	1.00[YRI][hapmap]
rs6951311	1.00[YRI][hapmap]
rs6978135	1.00[YRI][hapmap]
rs964449	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv889074	chr7:116552859-116604194	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv889075	chr7:116552859-116610237	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv889073	chr7:116552859-116611113	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116515400-116559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:116525800-116559400	Weak transcription	Colonic Mucosa	Colon
3	chr7:116526800-116559400	Weak transcription	Stomach Mucosa	stomach
4	chr7:116527000-116560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:116532000-116559600	Strong transcription	HSMM	muscle
6	chr7:116538000-116559600	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:116538200-116562400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:116538600-116559400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:116540400-116559800	Strong transcription	Fetal Thymus	thymus
10	chr7:116543000-116559000	Strong transcription	HUVEC	blood vessel
11	chr7:116543000-116560800	Strong transcription	Primary B cells from peripheral blood	blood
12	chr7:116543200-116559600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:116543200-116559600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr7:116543200-116562400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr7:116543600-116559200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:116543800-116561400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:116544000-116568600	Weak transcription	Fetal Brain Male	brain
18	chr7:116544400-116570600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr7:116546200-116559600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:116546200-116560600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:116546400-116559600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:116546400-116559600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:116546600-116559200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:116549200-116559200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:116549800-116559000	Strong transcription	Placenta	Placenta
26	chr7:116549800-116559000	Strong transcription	Dnd41	blood
27	chr7:116549800-116559000	Strong transcription	K562	blood
28	chr7:116549800-116559200	Strong transcription	Osteobl	bone
29	chr7:116550000-116559000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr7:116550000-116559400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:116550000-116559600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr7:116550000-116560800	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:116550000-116562400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:116551000-116559400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr7:116551200-116558800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr7:116551200-116559200	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:116551400-116559600	Strong transcription	GM12878-XiMat	blood
38	chr7:116552000-116559800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:116552000-116570600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:116552400-116559400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:116552400-116569000	Weak transcription	NHLF	lung
42	chr7:116552600-116559200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:116553000-116561000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:116553000-116561400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:116553200-116559200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:116553200-116559800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:116553200-116561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:116553200-116570600	Weak transcription	Brain Substantia Nigra	brain
49	chr7:116553600-116563400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr7:116554200-116559400	Strong transcription	Adipose Nuclei	Adipose

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