Variant report

Variant	rs61388284
Chromosome Location	chr12:118785072-118785073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118783117..118785703-chr12:118815737..118817299,2	K562	blood:
2	chr12:118779295..118781824-chr12:118782291..118786005,4	K562	blood:
3	chr12:118777906..118781488-chr12:118782215..118786255,6	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10160871	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10507287	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12311160	0.83[ASN][1000 genomes]
rs12315982	0.91[ASN][1000 genomes]
rs2062521	0.97[ASN][1000 genomes]
rs56097381	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56818943	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57261188	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59485640	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7134670	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7137548	0.97[ASN][1000 genomes]
rs7313514	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7967474	0.83[ASN][1000 genomes]
rs7974361	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118768800-118790400	Weak transcription	Primary T cells from cord blood	blood
3	chr12:118769200-118785800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:118769200-118791000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:118770000-118785200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:118774000-118792400	Weak transcription	Dnd41	blood
7	chr12:118775800-118792000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:118775800-118792600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:118776200-118792000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:118777000-118791000	Weak transcription	NHDF-Ad	bronchial
11	chr12:118780000-118790400	Weak transcription	Liver	Liver
12	chr12:118780400-118785600	Weak transcription	A549	lung
13	chr12:118781000-118793600	Weak transcription	NHEK	skin
14	chr12:118781800-118785200	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:118782000-118785600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:118782000-118786600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:118782200-118786000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:118782600-118785600	Enhancers	Primary B cells from cord blood	blood
19	chr12:118782800-118786000	Enhancers	Brain Substantia Nigra	brain
20	chr12:118783200-118786200	Enhancers	Brain Anterior Caudate	brain
21	chr12:118783400-118785800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:118783400-118789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:118783400-118791000	Weak transcription	NHLF	lung
24	chr12:118783600-118785400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:118783600-118785800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:118783600-118792200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:118783600-118793000	Weak transcription	Osteobl	bone
28	chr12:118783600-118794400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:118784000-118786200	Enhancers	Duodenum Mucosa	Duodenum
30	chr12:118784200-118786000	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:118784200-118786200	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:118784200-118793600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:118784400-118785200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr12:118784400-118785400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:118784400-118785400	Flanking Active TSS	GM12878-XiMat	blood
36	chr12:118784400-118785600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:118784400-118785600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr12:118784400-118786000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr12:118784400-118786000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr12:118784400-118786200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:118784400-118786200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:118784400-118786200	Enhancers	Brain Hippocampus Middle	brain
43	chr12:118784400-118786600	Enhancers	Fetal Intestine Large	intestine
44	chr12:118784600-118786200	Enhancers	Brain Angular Gyrus	brain
45	chr12:118784800-118785400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr12:118784800-118785400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:118784800-118785400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:118784800-118785400	Enhancers	Left Ventricle	heart
49	chr12:118784800-118785400	Enhancers	Lung	lung
50	chr12:118784800-118785600	Enhancers	Psoas Muscle	Psoas

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