Variant report

Variant	rs12957037
Chromosome Location	chr18:12829065-12829066
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12828774..12831402-chr18:12837889..12840391,3	K562	blood:
2	chr18:12828322..12831138-chr18:12840909..12843009,2	K562	blood:
3	chr18:12827164..12830026-chr18:12882449..12884069,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12971201	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2542162	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2847273	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2847281	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2852151	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3826557	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs478582	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4797709	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs559406	0.99[ASN][1000 genomes]
rs588447	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592390	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs641085	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674222	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8087237	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
7	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12957037	RP11-973H7.4	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12777800-12838200	Weak transcription	Colonic Mucosa	Colon
2	chr18:12791400-12837000	Weak transcription	NHDF-Ad	bronchial
3	chr18:12802000-12842400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:12807200-12842400	Weak transcription	Fetal Heart	heart
5	chr18:12809600-12833200	Weak transcription	HSMM	muscle
6	chr18:12809600-12838200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:12809600-12838200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr18:12812000-12838400	Weak transcription	Right Ventricle	heart
9	chr18:12814400-12843400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:12817400-12833400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr18:12817800-12837600	Weak transcription	NH-A	brain
12	chr18:12820000-12836400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr18:12820400-12838600	Weak transcription	Brain Angular Gyrus	brain
14	chr18:12820800-12830800	Weak transcription	Lung	lung
15	chr18:12820800-12837600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr18:12820800-12838200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr18:12820800-12838200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:12821000-12833400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr18:12821000-12840400	Weak transcription	Brain Substantia Nigra	brain
20	chr18:12821400-12834000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr18:12821400-12836800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr18:12821600-12839200	Weak transcription	Brain Anterior Caudate	brain
23	chr18:12821800-12851800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr18:12822000-12832200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr18:12822600-12832000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr18:12822800-12833400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr18:12823000-12837600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr18:12823400-12836200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:12824000-12829400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr18:12824200-12831400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr18:12824200-12835000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:12825400-12833000	Weak transcription	HSMMtube	muscle
33	chr18:12825400-12838200	Weak transcription	Gastric	stomach
34	chr18:12825400-12840400	Weak transcription	Spleen	Spleen
35	chr18:12825600-12838200	Weak transcription	Aorta	Aorta
36	chr18:12825600-12838200	Weak transcription	K562	blood
37	chr18:12825800-12829200	Weak transcription	Ovary	ovary
38	chr18:12826000-12838400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr18:12826400-12837800	Weak transcription	Fetal Brain Male	brain
40	chr18:12826600-12831000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr18:12826800-12838200	Weak transcription	Pancreas	Pancrea
42	chr18:12827000-12829400	ZNF genes & repeats	Thymus	Thymus
43	chr18:12827000-12829600	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr18:12827000-12831600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr18:12827200-12829800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr18:12827200-12836600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr18:12827400-12829200	Strong transcription	HMEC	breast
48	chr18:12827400-12829600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr18:12827600-12830200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:12827600-12830200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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