Variant report

Variant	rs17099839
Chromosome Location	chr12:64202233-64202234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11175173	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12315288	1.00[CEU][hapmap]
rs12422679	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12425456	0.84[EUR][1000 genomes]
rs12426316	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1876465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2336001	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6581505	1.00[CEU][hapmap]
rs7298550	0.84[EUR][1000 genomes]
rs7304055	1.00[CEU][hapmap]
rs7312734	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7967092	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv899171	chr12:63916682-64202233	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv746	chr12:64189444-64234966	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3529300	chr12:64196044-64202575	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3529299	chr12:64196064-64202546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3488130	chr12:64196075-64202607	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3488141	chr12:64196172-64202459	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3381863	chr12:64196182-64202457	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3488152	chr12:64196186-64202455	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3529301	chr12:64196186-64202455	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64174400-64203400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:64174400-64204400	Weak transcription	Small Intestine	intestine
3	chr12:64174400-64204800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:64174600-64204400	Weak transcription	Colonic Mucosa	Colon
5	chr12:64174800-64208000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:64174800-64208000	Weak transcription	Fetal Brain Male	brain
7	chr12:64174800-64208600	Weak transcription	Fetal Brain Female	brain
8	chr12:64175200-64202400	Weak transcription	Fetal Heart	heart
9	chr12:64175200-64205200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:64175400-64202600	Weak transcription	Hela-S3	cervix
11	chr12:64175400-64202800	Weak transcription	HUVEC	blood vessel
12	chr12:64175400-64204400	Weak transcription	Brain Angular Gyrus	brain
13	chr12:64175600-64208000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:64178000-64209800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:64178400-64204000	Weak transcription	HMEC	breast
16	chr12:64178600-64208400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:64181000-64204400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:64181200-64204400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:64181200-64205400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:64182000-64208000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:64182800-64205200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:64184400-64203600	Weak transcription	K562	blood
23	chr12:64184400-64204200	Weak transcription	NHEK	skin
24	chr12:64184600-64204400	Weak transcription	Esophagus	oesophagus
25	chr12:64184600-64205800	Weak transcription	Fetal Kidney	kidney
26	chr12:64184600-64206000	Weak transcription	Psoas Muscle	Psoas
27	chr12:64184800-64202400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:64184800-64203600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:64185000-64205000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:64185000-64207800	Weak transcription	NH-A	brain
31	chr12:64185200-64207800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:64185600-64206600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:64186600-64203000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:64189400-64215600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:64197000-64202600	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr12:64198600-64203200	Strong transcription	Primary T cells from cord blood	blood
37	chr12:64199000-64202600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr12:64199000-64202800	Strong transcription	Fetal Muscle Leg	muscle
39	chr12:64199000-64203600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:64199000-64203800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:64199200-64203000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:64199200-64203400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:64199200-64203600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:64199200-64203600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:64199200-64207000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:64199400-64202600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:64199400-64202600	Strong transcription	Adipose Nuclei	Adipose
48	chr12:64199400-64202800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:64199400-64203600	Strong transcription	Primary B cells from cord blood	blood
50	chr12:64199400-64203600	Strong transcription	Dnd41	blood

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