Variant report

Variant	rs61945188
Chromosome Location	chr12:118666974-118666975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118666496..118668871-chr12:118808783..118811137,2	MCF-7	breast:
2	chr12:118666340..118669274-chr12:118811225..118812911,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10507286	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068870	0.83[EUR][1000 genomes]
rs11068891	0.91[EUR][1000 genomes]
rs11068906	0.84[EUR][1000 genomes]
rs11068908	0.86[EUR][1000 genomes]
rs11068910	0.82[EUR][1000 genomes]
rs12229607	0.86[EUR][1000 genomes]
rs12308475	0.83[EUR][1000 genomes]
rs16948193	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948197	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948204	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948230	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948234	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17433217	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440364	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440433	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440669	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17440774	0.92[EUR][1000 genomes]
rs17440823	0.85[EUR][1000 genomes]
rs17512142	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512177	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512198	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512219	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17512407	0.87[EUR][1000 genomes]
rs17512483	0.83[EUR][1000 genomes]
rs17512525	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17512574	0.85[EUR][1000 genomes]
rs17512609	0.82[EUR][1000 genomes]
rs17512644	0.81[EUR][1000 genomes]
rs17512652	0.81[EUR][1000 genomes]
rs2280711	0.87[EUR][1000 genomes]
rs2784	0.83[EUR][1000 genomes]
rs3852531	1.00[ASN][1000 genomes]
rs3852532	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55833534	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56033674	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284927	0.85[EUR][1000 genomes]
rs56708462	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58113338	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58884645	0.91[EUR][1000 genomes]
rs61943362	0.83[EUR][1000 genomes]
rs61943364	0.95[EUR][1000 genomes]
rs61943365	0.84[EUR][1000 genomes]
rs61943535	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943537	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61943538	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945175	0.88[EUR][1000 genomes]
rs61945176	0.88[EUR][1000 genomes]
rs61945177	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945180	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945181	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945182	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945183	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945184	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945187	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945189	1.00[ASN][1000 genomes]
rs61945190	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945192	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945206	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945207	0.87[EUR][1000 genomes]
rs61945210	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945212	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945216	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945217	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945218	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61945219	0.91[EUR][1000 genomes]
rs61945220	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945221	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61945223	0.87[EUR][1000 genomes]
rs61945224	0.87[EUR][1000 genomes]
rs61945225	0.87[EUR][1000 genomes]
rs61945226	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61945228	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61946063	0.83[EUR][1000 genomes]
rs61946064	0.85[EUR][1000 genomes]
rs61946067	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61946068	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6490173	0.86[EUR][1000 genomes]
rs6490175	0.80[EUR][1000 genomes]
rs7136216	0.80[EUR][1000 genomes]
rs7301950	1.00[ASN][1000 genomes]
rs7302387	0.83[EUR][1000 genomes]
rs7303417	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307393	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7309671	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7314987	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205512	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205526	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73205531	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73205551	0.81[EUR][1000 genomes]
rs73222058	0.91[EUR][1000 genomes]
rs7954330	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957828	0.83[EUR][1000 genomes]
rs7961312	0.84[EUR][1000 genomes]
rs7962185	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7963353	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963464	0.91[EUR][1000 genomes]
rs7965350	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970481	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973455	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7974718	0.91[EUR][1000 genomes]
rs7977403	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9669004	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9943819	0.82[EUR][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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv1815572	chr12:118664823-118685792	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118621000-118682600	Weak transcription	A549	lung
2	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
3	chr12:118628800-118672600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:118628800-118673000	Weak transcription	NH-A	brain
5	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:118637400-118671400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:118637400-118672400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
11	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
12	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
13	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
14	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
15	chr12:118637600-118673000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:118638800-118687800	Weak transcription	Gastric	stomach
17	chr12:118639000-118672200	Weak transcription	Placenta	Placenta
18	chr12:118639000-118672200	Weak transcription	Left Ventricle	heart
19	chr12:118639000-118672800	Weak transcription	Small Intestine	intestine
20	chr12:118639400-118674800	Weak transcription	HMEC	breast
21	chr12:118639800-118672600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:118643000-118672200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:118650400-118690400	Weak transcription	Stomach Mucosa	stomach
24	chr12:118650600-118671400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:118650600-118672400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:118650600-118679400	Weak transcription	HUVEC	blood vessel
27	chr12:118650800-118672200	Weak transcription	HSMM	muscle
28	chr12:118651800-118672200	Weak transcription	Lung	lung
29	chr12:118651800-118672400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:118652000-118672200	Weak transcription	Fetal Thymus	thymus
31	chr12:118652000-118672600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:118652000-118673000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:118652200-118672600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:118652200-118727800	Weak transcription	NHLF	lung
35	chr12:118654000-118674000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr12:118658000-118685400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:118658800-118672400	Weak transcription	Brain Substantia Nigra	brain
38	chr12:118659000-118672600	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:118659000-118672800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:118659000-118675200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:118659000-118693800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr12:118660400-118672000	Weak transcription	Fetal Stomach	stomach
43	chr12:118660600-118668800	Weak transcription	K562	blood
44	chr12:118660600-118674800	Weak transcription	HepG2	liver
45	chr12:118661800-118669200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:118662000-118668400	Weak transcription	Primary T cells from cord blood	blood
47	chr12:118663200-118669600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:118663400-118668600	Weak transcription	Primary B cells from cord blood	blood
49	chr12:118663800-118672600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr12:118664800-118668800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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