Variant report

Variant	rs7980060
Chromosome Location	chr12:124155693-124155694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124155376..124157580-chr12:124194948..124197481,2	K562	blood:
2	chr12:124155020..124157089-chr12:124215035..124217819,2	MCF-7	breast:
3	chr12:124155436..124158746-chr12:124195101..124198299,4	MCF-7	breast:
4	chr12:124131124..124134135-chr12:124154416..124157411,3	K562	blood:
5	chr12:124116825..124119400-chr12:124154444..124157055,3	MCF-7	breast:
6	chr12:124155686..124156232-chr17:56084289..56085093,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000111361	Chromatin interaction
ENSG00000136450	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000111358	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11572910	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs11572918	0.94[AFR][1000 genomes]
rs11612927	0.91[YRI][hapmap]
rs12809853	0.85[YRI][hapmap]
rs12816883	0.88[AFR][1000 genomes]
rs12829500	0.82[AFR][1000 genomes]
rs4930709	0.82[AFR][1000 genomes]
rs4930737	0.83[LWK][hapmap]
rs7135542	0.94[YRI][hapmap]
rs7306528	0.90[AFR][1000 genomes]
rs7313207	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
8	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	esv35148	chr12:124119120-124196120	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv2756516	chr12:124119120-124196120	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1053101	chr12:124119155-124172731	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
13	nsv524660	chr12:124119983-124194438	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv455733	chr12:124119983-124195856	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv560496	chr12:124119983-124195856	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv1036843	chr12:124122376-124169697	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	nsv1052065	chr12:124127003-124157939	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv1051385	chr12:124127003-124160021	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv1053923	chr12:124127003-124162750	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv1037556	chr12:124127003-124166978	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	nsv1043738	chr12:124127003-124169697	Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
22	nsv1046151	chr12:124127003-124172731	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
23	nsv1045476	chr12:124127003-124174020	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	nsv1055052	chr12:124127003-124176120	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
25	nsv1044734	chr12:124127003-124179417	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
26	nsv560497	chr12:124129460-124195856	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
27	nsv560498	chr12:124129924-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124155200-124155800	Active TSS	Brain Germinal Matrix	brain
2	chr12:124155200-124156000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:124155200-124156000	Active TSS	Brain Hippocampus Middle	brain
4	chr12:124155200-124156000	Active TSS	Ovary	ovary
5	chr12:124155200-124156200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr12:124155200-124156200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr12:124155200-124156200	Active TSS	Brain Anterior Caudate	brain
8	chr12:124155200-124156200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:124155200-124156200	Active TSS	Brain Substantia Nigra	brain
10	chr12:124155200-124156200	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr12:124155200-124156200	Active TSS	Fetal Brain Female	brain
12	chr12:124155200-124156200	Active TSS	Placenta Amnion	Placenta Amnion
13	chr12:124155200-124156200	Active TSS	HepG2	liver
14	chr12:124155200-124156400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:124155200-124156400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr12:124155200-124156400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr12:124155200-124156400	Flanking Active TSS	Liver	Liver
18	chr12:124155200-124156400	Active TSS	Colon Smooth Muscle	Colon
19	chr12:124155200-124156400	Active TSS	Right Atrium	heart
20	chr12:124155200-124156600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr12:124155200-124156600	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr12:124155200-124156800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr12:124155200-124156800	Flanking Active TSS	Dnd41	blood
24	chr12:124155400-124155800	Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr12:124155400-124155800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:124155400-124155800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:124155400-124155800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:124155400-124155800	Enhancers	Fetal Heart	heart
29	chr12:124155400-124156000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:124155400-124156000	Active TSS	Brain Cingulate Gyrus	brain
31	chr12:124155400-124156000	Active TSS	Esophagus	oesophagus
32	chr12:124155400-124156000	Active TSS	Fetal Muscle Trunk	muscle
33	chr12:124155400-124156000	Active TSS	Gastric	stomach
34	chr12:124155400-124156000	Active TSS	HSMM	muscle
35	chr12:124155400-124156200	Active TSS	H9 Cell Line	embryonic stem cell
36	chr12:124155400-124156200	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr12:124155400-124156200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr12:124155400-124156200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:124155400-124156200	Active TSS	Colonic Mucosa	Colon
40	chr12:124155400-124156200	Active TSS	Fetal Intestine Small	intestine
41	chr12:124155400-124156200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr12:124155400-124156400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:124155400-124156400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:124155400-124156400	Active TSS	Psoas Muscle	Psoas
45	chr12:124155400-124156600	Active TSS	Fetal Intestine Large	intestine
46	chr12:124155400-124156800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:124155400-124156800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:124155400-124156800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr12:124155400-124156800	Active TSS	Fetal Kidney	kidney
50	chr12:124155600-124155800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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