Variant report

Variant	rs16988110
Chromosome Location	chr22:30332672-30332673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30330994..30332769-chr22:30343214..30346064,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12484983	0.82[YRI][hapmap]
rs13055998	0.83[YRI][hapmap]
rs16988003	1.00[AMR][1000 genomes]
rs16988080	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16988129	0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16988200	1.00[AMR][1000 genomes]
rs2412961	0.85[YRI][hapmap]
rs3788422	0.87[YRI][hapmap]
rs5763681	0.85[YRI][hapmap]
rs5763695	0.87[YRI][hapmap]
rs5763701	0.85[YRI][hapmap]
rs5763746	0.85[YRI][hapmap]
rs6519799	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7286681	0.87[YRI][hapmap]
rs8142101	0.87[YRI][hapmap]
rs916807	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869764	chr22:30323649-30367813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1058511	chr22:30330447-30361881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763694	chr22:30330459-30361881	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30311000-30333200	Weak transcription	Primary B cells from cord blood	blood
2	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30311800-30340400	Weak transcription	HSMM	muscle
4	chr22:30312600-30339800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
6	chr22:30313600-30339800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
8	chr22:30314200-30334200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:30318000-30334000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:30319800-30333800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:30320400-30333800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr22:30320600-30339800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr22:30321400-30339800	Weak transcription	Lung	lung
14	chr22:30321800-30334000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:30324400-30337800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:30327600-30342200	Weak transcription	Brain Angular Gyrus	brain
17	chr22:30328200-30333800	Weak transcription	Primary T cells from cord blood	blood
18	chr22:30328400-30333800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr22:30328400-30343600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr22:30328800-30333400	Weak transcription	GM12878-XiMat	blood
22	chr22:30330400-30333800	Weak transcription	Right Atrium	heart
23	chr22:30330600-30339400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr22:30330600-30342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:30331200-30332800	Enhancers	Stomach Mucosa	stomach
26	chr22:30331200-30334800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr22:30331400-30333800	Weak transcription	Brain Substantia Nigra	brain
28	chr22:30331600-30336600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:30331600-30339800	Weak transcription	Ovary	ovary
30	chr22:30331800-30332800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr22:30332000-30332800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:30332000-30332800	Enhancers	Brain Hippocampus Middle	brain
33	chr22:30332000-30332800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr22:30332000-30342200	Weak transcription	Gastric	stomach
35	chr22:30332200-30332800	Enhancers	Adipose Nuclei	Adipose
36	chr22:30332400-30332800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr22:30332400-30332800	Enhancers	HMEC	breast
38	chr22:30332400-30337200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr22:30332600-30333400	Weak transcription	Brain Anterior Caudate	brain
40	chr22:30332600-30334000	Weak transcription	Psoas Muscle	Psoas
41	chr22:30332600-30334000	Weak transcription	A549	lung
42	chr22:30332600-30334400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr22:30332600-30335600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:30332600-30336600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr22:30332600-30337000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr22:30332600-30339800	Weak transcription	Left Ventricle	heart
47	chr22:30332600-30345000	Weak transcription	Pancreas	Pancrea
48	chr22:30332600-30347400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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