Variant report

Variant	rs16830109
Chromosome Location	chr2:152355215-152355216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152355139..152355815-chr2:152882008..152882831,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10497085	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs11680579	0.85[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11681068	0.86[CHB][hapmap];1.00[YRI][hapmap]
rs11689442	0.86[CHB][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs11690396	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs11695285	0.86[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16830085	0.86[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16830094	0.86[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs16830106	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs16830114	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs16830117	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs16830125	1.00[YRI][hapmap]
rs16830128	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs16830130	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs16830192	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2288197	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs2288200	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2288205	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2288209	0.85[CHB][hapmap];0.83[ASN][1000 genomes]
rs35227368	0.83[ASN][1000 genomes]
rs35885198	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs4364020	0.83[ASN][1000 genomes]
rs56401060	0.84[ASN][1000 genomes]
rs6739271	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs73967562	0.84[ASN][1000 genomes]
rs73967566	0.83[ASN][1000 genomes]
rs73967569	0.83[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:152320800-152358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:152324200-152382400	Weak transcription	Aorta	Aorta
4	chr2:152326400-152367400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:152338200-152356600	Strong transcription	HSMMtube	muscle
6	chr2:152338200-152370000	Strong transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:152338600-152358200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:152340400-152371000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:152340600-152364600	Weak transcription	HepG2	liver
10	chr2:152341200-152366200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:152341600-152390600	Weak transcription	Left Ventricle	heart
12	chr2:152341800-152364400	Weak transcription	Fetal Intestine Small	intestine
13	chr2:152342800-152366200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:152343000-152360800	Weak transcription	Psoas Muscle	Psoas
15	chr2:152343000-152365200	Weak transcription	Fetal Lung	lung
16	chr2:152343200-152422200	Weak transcription	Primary B cells from cord blood	blood
17	chr2:152343400-152366800	Weak transcription	Dnd41	blood
18	chr2:152343400-152371000	Weak transcription	Adipose Nuclei	Adipose
19	chr2:152343400-152373000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:152343600-152362400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:152344000-152366400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:152346200-152370000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:152347000-152387200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:152347200-152362800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:152348000-152364400	Weak transcription	Fetal Stomach	stomach
26	chr2:152348600-152369600	Weak transcription	K562	blood
27	chr2:152348800-152366200	Weak transcription	Primary T cells from cord blood	blood
28	chr2:152348800-152400800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:152349400-152370000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:152350000-152358600	Weak transcription	HSMM	muscle
31	chr2:152350000-152362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:152350000-152366200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:152352800-152359800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:152353200-152367600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:152354200-152355400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:152354200-152355400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr2:152354200-152355400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:152354200-152355600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:152354800-152355400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:152355000-152360400	Weak transcription	Fetal Muscle Leg	muscle

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