Variant report

Variant	rs16829828
Chromosome Location	chr2:152119533-152119534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152114220..152115726-chr2:152118400..152119936,2	K562	blood:
2	chr2:152117804..152120182-chr2:152144785..152147621,2	MCF-7	breast:
3	chr2:152115426..152120009-chr2:152142898..152146726,5	K562	blood:
4	chr2:152116678..152120470-chr2:152265032..152268454,8	MCF-7	breast:
5	chr2:152116868..152120610-chr2:152144685..152147660,4	MCF-7	breast:
6	chr2:152117973..152120026-chr2:152143620..152147532,3	K562	blood:

Variant related genes	Relation type
ENSG00000080345	Chromatin interaction
ENSG00000123609	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16829833	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs16829835	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs289890	1.00[CEU][hapmap]
rs57327601	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152118400-152126400	Weak transcription	Spleen	Spleen
2	chr2:152118600-152119600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:152118600-152120800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:152118600-152120800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:152118600-152120800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:152118600-152126400	Weak transcription	Lung	lung
7	chr2:152118600-152126600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:152118600-152133800	Weak transcription	Gastric	stomach
9	chr2:152118600-152142800	Weak transcription	Small Intestine	intestine
10	chr2:152118800-152119600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:152118800-152119600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:152118800-152119600	Enhancers	Fetal Brain Male	brain
13	chr2:152118800-152120600	Weak transcription	Pancreas	Pancrea
14	chr2:152118800-152120800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:152118800-152120800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:152118800-152120800	Weak transcription	Ovary	ovary
17	chr2:152118800-152121000	Weak transcription	Brain Angular Gyrus	brain
18	chr2:152118800-152123000	Weak transcription	Fetal Brain Female	brain
19	chr2:152118800-152125000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:152118800-152126200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:152118800-152126200	Weak transcription	Placenta	Placenta
22	chr2:152118800-152126400	Weak transcription	Fetal Intestine Large	intestine
23	chr2:152118800-152126400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:152118800-152126400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:152118800-152126400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:152118800-152126600	Weak transcription	Esophagus	oesophagus
27	chr2:152118800-152129800	Weak transcription	Colonic Mucosa	Colon
28	chr2:152118800-152130000	Weak transcription	Fetal Stomach	stomach
29	chr2:152118800-152130600	Weak transcription	Fetal Intestine Small	intestine
30	chr2:152118800-152133800	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:152118800-152134000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:152118800-152144000	Weak transcription	Stomach Mucosa	stomach
33	chr2:152118800-152144200	Weak transcription	Psoas Muscle	Psoas
34	chr2:152119000-152119600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:152119000-152119600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr2:152119000-152119600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:152119000-152119600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:152119000-152119600	Enhancers	Colon Smooth Muscle	Colon
39	chr2:152119000-152120600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:152119000-152120600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:152119000-152120600	Weak transcription	HSMMtube	muscle
42	chr2:152119000-152120600	Weak transcription	NH-A	brain
43	chr2:152119000-152120800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:152119000-152120800	Weak transcription	Brain Anterior Caudate	brain
45	chr2:152119000-152120800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:152119000-152121600	Enhancers	Liver	Liver
47	chr2:152119000-152123400	Weak transcription	GM12878-XiMat	blood
48	chr2:152119000-152124600	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:152119000-152126200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr2:152119000-152126200	Weak transcription	Monocytes-CD14+_RO01746	blood

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