Variant report

Variant	rs7134670
Chromosome Location	chr12:118779303-118779304
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118779295..118781824-chr12:118782291..118786005,4	K562	blood:
2	chr12:118778728..118780877-chr12:118813193..118815933,2	K562	blood:
3	chr12:118764089..118768365-chr12:118776795..118780945,4	K562	blood:
4	chr12:118777906..118781488-chr12:118782215..118786255,6	K562	blood:
5	chr12:118778728..118784992-chr12:118810812..118815576,8	K562	blood:

Variant related genes	Relation type
ENSG00000270482	Chromatin interaction
ENSG00000111707	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10160871	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10507287	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12311160	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12315982	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2062521	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56097381	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56818943	0.85[ASN][1000 genomes]
rs57261188	0.83[ASN][1000 genomes]
rs61388284	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7137548	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7313514	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7967474	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7974361	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:118752800-118783200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:118754600-118782200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:118768800-118790400	Weak transcription	Primary T cells from cord blood	blood
7	chr12:118769000-118783200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:118769000-118783200	Weak transcription	Brain Anterior Caudate	brain
9	chr12:118769000-118784000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:118769200-118782000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:118769200-118783200	Weak transcription	Gastric	stomach
12	chr12:118769200-118785000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:118769200-118785800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:118769200-118791000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:118769800-118782600	Weak transcription	Fetal Intestine Small	intestine
16	chr12:118770000-118785200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:118770600-118780400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:118773600-118780400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:118774000-118792400	Weak transcription	Dnd41	blood
20	chr12:118774200-118782000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:118774800-118783200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:118775800-118783000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:118775800-118792000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:118775800-118792600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:118776000-118782000	Weak transcription	Primary B cells from cord blood	blood
26	chr12:118776200-118784400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:118776200-118792000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:118776400-118783200	Weak transcription	NHLF	lung
29	chr12:118777000-118780000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:118777000-118781800	Weak transcription	K562	blood
31	chr12:118777000-118782000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:118777000-118782000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:118777000-118782000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:118777000-118782200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:118777000-118782800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:118777000-118791000	Weak transcription	NHDF-Ad	bronchial
37	chr12:118777200-118780200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:118777200-118784800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr12:118777400-118782000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:118778200-118780000	Weak transcription	A549	lung
41	chr12:118778200-118782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr12:118778400-118782800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:118778800-118780000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:118778800-118780800	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:118778800-118782200	Weak transcription	GM12878-XiMat	blood
46	chr12:118778800-118783200	Weak transcription	Pancreas	Pancrea
47	chr12:118779000-118779400	Weak transcription	Stomach Mucosa	stomach

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