Variant report

Variant	rs16830094
Chromosome Location	chr2:152344811-152344812
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152343156..152345753-chr2:152361266..152362840,2	K562	blood:

Variant related genes	Relation type
ENSG00000080345	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10497085	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11675384	0.87[EUR][1000 genomes]
rs11680579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11681068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs11683313	1.00[EUR][1000 genomes]
rs11687243	0.83[EUR][1000 genomes]
rs11689442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11690396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830106	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16830109	0.86[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16830114	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16830117	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16830125	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs16830128	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[ASN][1000 genomes]
rs16830130	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[ASN][1000 genomes]
rs16830177	0.90[JPT][hapmap]
rs16830186	0.91[JPT][hapmap]
rs16830192	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2288197	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[ASN][1000 genomes]
rs2288200	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2288205	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2288209	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs35227368	0.88[ASN][1000 genomes]
rs35885198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs4364020	0.88[ASN][1000 genomes]
rs56401060	0.89[ASN][1000 genomes]
rs6739271	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs73967562	0.89[ASN][1000 genomes]
rs73967566	0.88[ASN][1000 genomes]
rs73967569	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv933869	chr2:152308156-152391576	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv437298	chr2:152320118-152356361	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3693428	chr2:152320932-152434896	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:152295800-152348400	Weak transcription	Right Ventricle	heart
3	chr2:152304800-152354000	Weak transcription	Spleen	Spleen
4	chr2:152314000-152349400	Weak transcription	Pancreas	Pancrea
5	chr2:152320800-152358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:152324000-152348800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:152324200-152382400	Weak transcription	Aorta	Aorta
8	chr2:152325600-152348800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:152326200-152347400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:152326400-152367400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:152326600-152348000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:152327200-152347400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:152327800-152346800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:152327800-152347800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:152328400-152347000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:152330600-152346800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:152332000-152345400	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:152332000-152350400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:152332400-152350800	Weak transcription	NHDF-Ad	bronchial
20	chr2:152334000-152349400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:152335000-152346800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:152335200-152349400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:152336800-152355000	Strong transcription	Fetal Muscle Leg	muscle
24	chr2:152337400-152348800	Weak transcription	Hela-S3	cervix
25	chr2:152338000-152346800	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:152338200-152356600	Strong transcription	HSMMtube	muscle
27	chr2:152338200-152370000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:152338400-152347200	Weak transcription	HMEC	breast
29	chr2:152338400-152349000	Weak transcription	HUVEC	blood vessel
30	chr2:152338600-152348800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:152338600-152358200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:152339400-152348200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:152339400-152348600	Weak transcription	Ovary	ovary
34	chr2:152339400-152350800	Weak transcription	A549	lung
35	chr2:152339600-152354400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:152339800-152350400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:152340400-152348400	Weak transcription	NHLF	lung
38	chr2:152340400-152349800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:152340400-152350000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:152340400-152371000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:152340600-152364600	Weak transcription	HepG2	liver
42	chr2:152341200-152366200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:152341400-152348400	Weak transcription	Brain Germinal Matrix	brain
44	chr2:152341400-152350200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:152341600-152347000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:152341600-152347400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:152341600-152348600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:152341600-152353400	Weak transcription	NHEK	skin
49	chr2:152341600-152390600	Weak transcription	Left Ventricle	heart
50	chr2:152341800-152346800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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