Variant report

Variant	rs7203007
Chromosome Location	chr16:70338270-70338271
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:70321312..70323493-chr16:70338115..70340559,2	MCF-7	breast:
2	chr16:70335532..70338884-chr16:70342954..70346060,3	MCF-7	breast:
3	chr16:70333712..70335282-chr16:70336416..70339025,2	K562	blood:
4	chr16:70332738..70336879-chr16:70337579..70341949,6	MCF-7	breast:
5	chr16:70332960..70334617-chr16:70337801..70340497,2	MCF-7	breast:
6	chr16:70338003..70340478-chr16:70365568..70367994,2	K562	blood:
7	chr16:70320811..70326767-chr16:70331299..70339483,12	K562	blood:

Variant related genes	Relation type
ENSG00000157349	Chromatin interaction
ENSG00000260537	Chromatin interaction
ENSG00000090861	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1058430	0.86[MKK][hapmap]
rs12923937	1.00[CHD][hapmap]
rs13334595	1.00[CHD][hapmap]
rs17881323	1.00[CHD][hapmap]
rs17881635	1.00[CHD][hapmap]
rs17883248	1.00[CHD][hapmap]
rs17883716	1.00[CHD][hapmap]
rs17886060	1.00[CHD][hapmap]
rs28653050	0.86[MKK][hapmap]
rs28838669	1.00[CHD][hapmap]
rs7184495	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7184733	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7190859	1.00[AFR][1000 genomes]
rs7192564	0.85[AFR][1000 genomes]
rs7195180	1.00[ASW][hapmap]
rs7196338	1.00[ASW][hapmap]
rs7196391	0.82[AFR][1000 genomes]
rs7200955	0.88[AFR][1000 genomes]
rs7205416	0.85[AFR][1000 genomes]
rs8047989	0.83[AFR][1000 genomes]
rs8058557	1.00[ASW][hapmap]
rs9929354	1.00[CHD][hapmap]

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	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv906871	chr16:70302333-70375873	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv906872	chr16:70303418-70356746	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
4	nsv960356	chr16:70318585-70339325	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
5	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70333800-70343800	Weak transcription	Lung	lung
2	chr16:70333800-70348800	Weak transcription	Placenta	Placenta
3	chr16:70333800-70349600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:70333800-70350200	Weak transcription	Gastric	stomach
5	chr16:70333800-70350800	Weak transcription	Aorta	Aorta
6	chr16:70333800-70367800	Weak transcription	Small Intestine	intestine
7	chr16:70334000-70338800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr16:70334000-70339000	Weak transcription	Primary T cells from cord blood	blood
9	chr16:70334000-70348800	Weak transcription	Brain Hippocampus Middle	brain
10	chr16:70334000-70349400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr16:70334000-70349400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:70334000-70349400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr16:70334000-70349400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr16:70334000-70349400	Weak transcription	HSMMtube	muscle
15	chr16:70334000-70349800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:70334000-70349800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:70334000-70349800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr16:70334000-70349800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr16:70334000-70349800	Weak transcription	Ovary	ovary
20	chr16:70334000-70349800	Weak transcription	Right Ventricle	heart
21	chr16:70334000-70349800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr16:70334000-70350200	Weak transcription	Left Ventricle	heart
23	chr16:70334000-70350400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr16:70334000-70368400	Weak transcription	Fetal Heart	heart
25	chr16:70334200-70338800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr16:70334200-70338800	Weak transcription	HMEC	breast
27	chr16:70334200-70338800	Weak transcription	NHEK	skin
28	chr16:70334200-70349800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr16:70334200-70349800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr16:70334200-70350000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:70334200-70379800	Weak transcription	Stomach Mucosa	stomach
32	chr16:70334400-70340000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr16:70334400-70349400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr16:70334400-70349800	Weak transcription	Esophagus	oesophagus
35	chr16:70334600-70338400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr16:70334600-70338400	Weak transcription	Spleen	Spleen
37	chr16:70334600-70339000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr16:70334600-70339000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr16:70334800-70349400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr16:70334800-70349800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:70335000-70338800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr16:70335200-70338800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr16:70335200-70338800	Weak transcription	NH-A	brain
44	chr16:70335200-70339000	Weak transcription	Liver	Liver
45	chr16:70335200-70344200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:70335200-70347000	Weak transcription	Adipose Nuclei	Adipose
47	chr16:70335200-70348800	Weak transcription	Brain Angular Gyrus	brain
48	chr16:70335200-70349800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr16:70335200-70349800	Weak transcription	Colon Smooth Muscle	Colon
50	chr16:70335200-70349800	Weak transcription	Fetal Intestine Large	intestine

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