Variant report

Variant	rs12671154
Chromosome Location	chr7:150573918-150573919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150145511..150146032-chr7:150573896..150574858,2	K562	blood:
2	chr7:150475526..150476482-chr7:150573625..150574754,8	MCF-7	breast:
3	chr7:150570270..150572638-chr7:150573385..150575681,2	K562	blood:
4	chr7:150573562..150577370-chr7:150577412..150580576,4	K562	blood:
5	chr7:150484477..150485748-chr7:150573549..150574883,10	MCF-7	breast:
6	chr7:150573077..150574072-chr7:150683253..150683875,2	K562	blood:
7	chr7:150475264..150476504-chr7:150573512..150575222,24	MCF-7	breast:
8	chr7:150475274..150476379-chr7:150573846..150574862,5	K562	blood:
9	chr7:150485004..150485681-chr7:150573803..150574496,3	MCF-7	breast:
10	chr7:150572299..150575283-chr7:150617480..150621735,3	K562	blood:
11	chr7:150572726..150575481-chr7:150755589..150757663,2	K562	blood:
12	chr7:150573002..150574576-chr7:150869374..150870431,9	K562	blood:
13	chr7:150573882..150574791-chr7:150685692..150686215,2	K562	blood:
14	chr7:150477211..150477855-chr7:150573375..150574392,3	K562	blood:
15	chr7:150573795..150574494-chr7:150595524..150596109,2	MCF-7	breast:
16	chr7:150572964..150574021-chr7:150869365..150870354,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164885	Chromatin interaction
ENSG00000164889	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10249447	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10264535	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10264668	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10264799	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10264902	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10279036	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10279051	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10279186	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11760854	0.90[ASN][1000 genomes]
rs11761679	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11762854	1.00[ASN][1000 genomes]
rs11764238	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11767097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768123	0.87[ASN][1000 genomes]
rs11770409	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771771	0.90[ASN][1000 genomes]
rs11772624	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11773715	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12670489	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12670945	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17173650	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17173651	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17173652	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17258890	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215562	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215563	0.90[ASN][1000 genomes]
rs2215564	0.90[ASN][1000 genomes]
rs2373877	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28425705	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28670237	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28785222	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28847671	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2888686	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2888687	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2888688	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28889269	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34549882	0.95[ASN][1000 genomes]
rs41465145	0.81[ASN][1000 genomes]
rs4266560	0.90[ASN][1000 genomes]
rs4618613	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62492377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62492378	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62492379	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62492382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62492398	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66781963	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67091546	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73165560	0.90[ASN][1000 genomes]
rs73165563	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73165568	1.00[ASN][1000 genomes]
rs73165572	1.00[ASN][1000 genomes]
rs73165573	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73167603	1.00[ASN][1000 genomes]
rs732416	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73468653	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73468655	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs758892	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs758894	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs758895	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7780509	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1029395	chr7:150547113-150574552	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3478426	chr7:150565520-150574349	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3478427	chr7:150565520-150574349	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv8230	chr7:150565686-150574267	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv608998	chr7:150565958-150578948	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv967441	chr7:150566747-150612420	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150569000-150576600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:150572000-150574400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:150572400-150574400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:150572400-150574600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr7:150572600-150574200	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:150572600-150574400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr7:150572600-150574800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:150572800-150574000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr7:150572800-150574400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr7:150572800-150574400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:150573000-150574000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
12	chr7:150573000-150574400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr7:150573000-150574400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:150573000-150574600	Enhancers	Primary B cells from peripheral blood	blood
15	chr7:150573000-150575800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:150573200-150574000	Enhancers	Primary T cells from cord blood	blood
17	chr7:150573200-150574000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:150573200-150574200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:150573200-150574600	Enhancers	Liver	Liver
20	chr7:150573200-150574600	Enhancers	Brain Cingulate Gyrus	brain
21	chr7:150573400-150574000	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:150573600-150574000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:150573600-150574000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:150573600-150574000	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:150573600-150574200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr7:150573600-150574800	Enhancers	Brain Anterior Caudate	brain
27	chr7:150573800-150574000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:150573800-150574000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:150573800-150574000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:150573800-150574000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr7:150573800-150574000	Bivalent/Poised TSS	K562	blood
32	chr7:150573800-150574200	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr7:150573800-150574200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr7:150573800-150574200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:150573800-150574200	Active TSS	Colonic Mucosa	Colon
36	chr7:150573800-150574200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr7:150573800-150574200	Active TSS	Rectal Smooth Muscle	rectum
38	chr7:150573800-150574400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:150573800-150574400	Enhancers	Brain Angular Gyrus	brain
40	chr7:150573800-150574400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr7:150573800-150574400	Active TSS	Fetal Kidney	kidney
42	chr7:150573800-150574400	Enhancers	Fetal Stomach	stomach
43	chr7:150573800-150574400	Enhancers	Fetal Thymus	thymus
44	chr7:150573800-150574400	Active TSS	Ovary	ovary
45	chr7:150573800-150574400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr7:150573800-150574400	Enhancers	Stomach Smooth Muscle	stomach
47	chr7:150573800-150574600	Enhancers	Fetal Intestine Large	intestine
48	chr7:150573800-150574800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr7:150573800-150574800	Enhancers	Brain Substantia Nigra	brain
50	chr7:150573800-150574800	Enhancers	Fetal Lung	lung

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