Variant report

Variant	rs12316630
Chromosome Location	chr12:31123672-31123673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31122291..31124648-chr12:31129528..31132132,2	K562	blood:
2	chr12:31122020..31124643-chr12:31127496..31129096,2	K562	blood:
3	chr12:31121879..31124648-chr12:31129528..31132087,2	K562	blood:
4	chr12:31116301..31118839-chr12:31122102..31125851,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12297390	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12320901	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17692219	0.89[EUR][1000 genomes]
rs17692279	0.88[EUR][1000 genomes]
rs61316227	0.89[EUR][1000 genomes]
rs61589216	0.83[EUR][1000 genomes]
rs66971284	0.85[EUR][1000 genomes]
rs67988263	0.87[EUR][1000 genomes]
rs73088072	0.84[EUR][1000 genomes]
rs73090193	0.84[EUR][1000 genomes]
rs73091904	0.92[EUR][1000 genomes]
rs73091919	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv832362	chr12:30957786-31124983	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1053711	chr12:30959987-31156297	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	esv2422366	chr12:31071959-31276836	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1047628	chr12:31080091-31149639	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv541441	chr12:31080091-31399162	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1038745	chr12:31087757-31305190	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1045370	chr12:31093232-31137140	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv1035182	chr12:31093232-31145726	Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	nsv1041200	chr12:31094362-31137140	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv522849	chr12:31095781-31129130	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv427906	chr12:31095869-31361902	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv1048128	chr12:31099937-31136256	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	nsv1037275	chr12:31099937-31137140	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
22	nsv1046132	chr12:31102884-31133065	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
23	esv2422323	chr12:31103190-31275170	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	esv2422496	chr12:31103190-31275170	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	esv2422264	chr12:31103190-31345995	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
26	nsv1039683	chr12:31110940-31133065	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
27	nsv1050758	chr12:31110940-31137140	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
28	nsv1050206	chr12:31115114-31150054	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
29	nsv1043203	chr12:31115114-31165130	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
30	nsv1049505	chr12:31115346-31171300	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	nsv1038545	chr12:31115475-31150054	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
32	nsv524047	chr12:31115733-31148662	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31108000-31130600	Weak transcription	Fetal Brain Female	brain
2	chr12:31112400-31126000	Weak transcription	Gastric	stomach
3	chr12:31117200-31128400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:31120800-31125200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:31121400-31124400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr12:31121600-31124200	Enhancers	Right Atrium	heart
7	chr12:31121800-31124600	Enhancers	Fetal Heart	heart
8	chr12:31122000-31124400	Enhancers	Right Ventricle	heart
9	chr12:31122000-31126400	Enhancers	Left Ventricle	heart
10	chr12:31122400-31124000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr12:31122400-31124000	Enhancers	Psoas Muscle	Psoas
12	chr12:31122400-31127600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:31122600-31124200	Enhancers	Adipose Nuclei	Adipose
14	chr12:31122600-31124400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:31122800-31124200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:31122800-31133600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:31123000-31123800	Enhancers	Brain Substantia Nigra	brain
18	chr12:31123000-31124000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:31123000-31124200	Enhancers	Brain Cingulate Gyrus	brain
20	chr12:31123000-31124200	Enhancers	Spleen	Spleen
21	chr12:31123000-31124400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:31123000-31124400	Enhancers	Placenta	Placenta
23	chr12:31123000-31125000	Enhancers	Fetal Muscle Leg	muscle
24	chr12:31123200-31123800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
25	chr12:31123200-31124000	Enhancers	Lung	lung
26	chr12:31123200-31125200	Enhancers	Fetal Stomach	stomach
27	chr12:31123200-31125400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:31123400-31123800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:31123400-31124000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:31123400-31124000	Enhancers	Brain Germinal Matrix	brain
31	chr12:31123400-31124000	Enhancers	Colonic Mucosa	Colon
32	chr12:31123400-31124000	Enhancers	Colon Smooth Muscle	Colon
33	chr12:31123400-31124000	Enhancers	Esophagus	oesophagus
34	chr12:31123400-31124200	Enhancers	HSMMtube	muscle
35	chr12:31123400-31124400	Enhancers	Ovary	ovary
36	chr12:31123400-31124600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:31123400-31125800	Weak transcription	Brain Angular Gyrus	brain
38	chr12:31123600-31123800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr12:31123600-31124000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr12:31123600-31124000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:31123600-31124000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:31123600-31124000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr12:31123600-31124200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:31123600-31124400	Enhancers	Fetal Lung	lung

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