Variant report

Variant	rs12629949
Chromosome Location	chr3:196006074-196006075
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	chr3:196002832..196006454-chr3:196043671..196046780,4	MCF-7	breast:
2	chr3:196005160..196007960-chr3:196014818..196016357,2	K562	blood:

Variant related genes	Relation type
ENSG00000235897	Chromatin interaction
ENSG00000272741	Chromatin interaction
ENSG00000161217	Chromatin interaction
ENSG00000213123	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11914521	0.80[ASN][1000 genomes]
rs11929532	0.80[ASN][1000 genomes]
rs12633502	0.82[ASN][1000 genomes]
rs12634304	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12637288	0.97[ASN][1000 genomes]
rs12637379	0.80[ASN][1000 genomes]
rs1357289	0.80[ASN][1000 genomes]
rs1948690	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2047551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2088666	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293160	0.80[ASN][1000 genomes]
rs3772109	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4396926	0.99[ASN][1000 genomes]
rs4916421	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916424	0.80[ASN][1000 genomes]
rs4916425	0.80[ASN][1000 genomes]
rs4916456	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916477	0.80[ASN][1000 genomes]
rs4916485	0.82[ASN][1000 genomes]
rs55878253	0.80[ASN][1000 genomes]
rs55996879	0.84[ASN][1000 genomes]
rs56240083	0.80[ASN][1000 genomes]
rs56370923	0.80[ASN][1000 genomes]
rs58297632	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs58945504	0.80[AMR][1000 genomes]
rs59289255	0.95[ASN][1000 genomes]
rs59352354	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60216585	0.80[ASN][1000 genomes]
rs60336404	0.80[ASN][1000 genomes]
rs61442465	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66487782	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66780758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66805306	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66927787	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66942309	0.82[ASN][1000 genomes]
rs67204670	0.82[ASN][1000 genomes]
rs67317524	0.80[ASN][1000 genomes]
rs67349960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67600689	0.80[ASN][1000 genomes]
rs6762272	0.80[ASN][1000 genomes]
rs6766480	0.83[ASN][1000 genomes]
rs67784045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6778879	0.80[ASN][1000 genomes]
rs68056570	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6809764	0.83[ASN][1000 genomes]
rs72611188	0.98[ASN][1000 genomes]
rs73212160	0.80[ASN][1000 genomes]
rs73212178	0.82[ASN][1000 genomes]
rs7636149	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7640304	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs870339	0.80[ASN][1000 genomes]
rs9714038	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
6	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
7	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
8	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
9	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
10	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
11	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
13	nsv878179	chr3:195929268-196019680	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
14	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	nsv878180	chr3:195946535-196066569	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
16	nsv878181	chr3:195946535-196072442	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
17	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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 target site	64 gene(s)	inside rSNPs	diseases
18	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
19	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195965800-196012400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:195969600-196012400	Weak transcription	Fetal Brain Male	brain
3	chr3:195990400-196006400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:195991800-196012400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:195996600-196006200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:195996600-196012600	Weak transcription	Fetal Kidney	kidney
7	chr3:195997400-196006200	Weak transcription	HSMM	muscle
8	chr3:195997400-196006400	Weak transcription	Brain Angular Gyrus	brain
9	chr3:195997600-196007800	Weak transcription	Small Intestine	intestine
10	chr3:195997600-196010600	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:195997800-196006200	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:196000200-196006200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:196000400-196006400	Weak transcription	HSMMtube	muscle
14	chr3:196000600-196006200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:196000600-196006200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:196000600-196006200	Weak transcription	Colonic Mucosa	Colon
17	chr3:196000600-196011200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:196000600-196012400	Weak transcription	Fetal Brain Female	brain
19	chr3:196000600-196012600	Weak transcription	Fetal Lung	lung
20	chr3:196000600-196012800	Weak transcription	Ovary	ovary
21	chr3:196000600-196013800	Weak transcription	Aorta	Aorta
22	chr3:196000800-196006200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:196001000-196006200	Weak transcription	Brain Substantia Nigra	brain
24	chr3:196001000-196011600	Weak transcription	Thymus	Thymus
25	chr3:196001000-196013800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:196001200-196006200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:196001200-196006200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr3:196001200-196011400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:196001200-196013600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:196001400-196006200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:196001400-196006400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:196001400-196013000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:196001400-196013200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:196001600-196013000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:196001800-196006200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:196001800-196006200	Weak transcription	Brain Anterior Caudate	brain
37	chr3:196001800-196006200	Weak transcription	NHLF	lung
38	chr3:196001800-196008000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:196001800-196010600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:196001800-196011600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:196001800-196012600	Weak transcription	Primary T cells from cord blood	blood
42	chr3:196001800-196012600	Weak transcription	Fetal Stomach	stomach
43	chr3:196002000-196011600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr3:196002200-196006200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:196002200-196006400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr3:196002200-196011800	Weak transcription	Dnd41	blood
47	chr3:196002200-196012600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr3:196002400-196011600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr3:196002400-196012600	Weak transcription	Primary B cells from peripheral blood	blood
50	chr3:196004800-196007200	Enhancers	Primary monocytes fromperipheralblood	blood

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