Variant report

Variant	rs7190535
Chromosome Location	chr16:30352768-30352769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30352162..30357397-chr16:30357774..30360192,4	K562	blood:
2	chr16:30345242..30347637-chr16:30352192..30354887,2	MCF-7	breast:
3	chr16:30352329..30355264-chr16:30366983..30369015,2	MCF-7	breast:
4	chr16:30352018..30354581-chr16:30361515..30364164,2	K562	blood:
5	chr16:30352266..30354018-chr16:30359193..30362629,3	MCF-7	breast:
6	chr16:30352018..30354393-chr16:30361515..30363064,2	K562	blood:

Variant related genes	Relation type
ENSG00000183604	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs58223373	1.00[AMR][1000 genomes]
rs59391245	1.00[AMR][1000 genomes]
rs61764205	1.00[AMR][1000 genomes]
rs6565181	0.85[AFR][1000 genomes]
rs74015017	1.00[AMR][1000 genomes]
rs8051182	1.00[AMR][1000 genomes]
rs9921376	1.00[ASW][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061165	chr16:29657389-30363743	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
4	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
6	esv1829730	chr16:30192562-30359312	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30346800-30361800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:30347200-30361600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:30347400-30360600	Weak transcription	Fetal Lung	lung
4	chr16:30347400-30361000	Weak transcription	Fetal Muscle Leg	muscle
5	chr16:30347400-30362000	Weak transcription	Brain Substantia Nigra	brain
6	chr16:30347400-30362200	Weak transcription	Aorta	Aorta
7	chr16:30347400-30363400	Weak transcription	Brain Angular Gyrus	brain
8	chr16:30347600-30353000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:30347600-30357000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:30347600-30358600	Weak transcription	Fetal Stomach	stomach
11	chr16:30347600-30360600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr16:30347600-30360600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:30347600-30360800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr16:30347600-30361000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr16:30347600-30361200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr16:30347600-30361600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr16:30347600-30361600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr16:30347600-30361600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:30347600-30361600	Weak transcription	Brain Anterior Caudate	brain
20	chr16:30347600-30361600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:30347600-30361800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr16:30347600-30361800	Weak transcription	Gastric	stomach
23	chr16:30347600-30362000	Weak transcription	Colonic Mucosa	Colon
24	chr16:30347600-30362200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr16:30347600-30363000	Weak transcription	Psoas Muscle	Psoas
26	chr16:30347800-30353000	Weak transcription	HSMM	muscle
27	chr16:30347800-30354400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr16:30347800-30359000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr16:30347800-30361000	Weak transcription	Primary T cells from cord blood	blood
30	chr16:30347800-30361000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr16:30347800-30361000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:30347800-30361200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:30347800-30361600	Weak transcription	Lung	lung
34	chr16:30347800-30361600	Weak transcription	Right Ventricle	heart
35	chr16:30347800-30361600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr16:30347800-30361800	Weak transcription	Left Ventricle	heart
37	chr16:30348000-30361000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr16:30348000-30361200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:30348000-30361600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr16:30348000-30361800	Weak transcription	A549	lung
41	chr16:30348800-30361000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr16:30348800-30361400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr16:30349000-30361600	Weak transcription	Pancreas	Pancrea
44	chr16:30349200-30355200	Enhancers	Liver	Liver
45	chr16:30349200-30358800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr16:30349200-30360800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:30349200-30361600	Weak transcription	Spleen	Spleen
48	chr16:30349200-30362000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr16:30349600-30358600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr16:30350600-30361600	Weak transcription	Adipose Nuclei	Adipose

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