Variant report

Variant	rs7980102
Chromosome Location	chr12:124426473-124426474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124418972..124421206-chr12:124425040..124426594,2	K562	blood:
2	chr12:124426014..124428363-chr12:124429735..124431659,2	K562	blood:

Variant related genes	Relation type
ENSG00000270005	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000250091	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1882487	1.00[AMR][1000 genomes]
rs59492575	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7296574	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7973103	0.83[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124408800-124428000	Weak transcription	Right Atrium	heart
2	chr12:124417600-124443600	Weak transcription	Fetal Kidney	kidney
3	chr12:124417800-124427400	Weak transcription	Fetal Brain Male	brain
4	chr12:124417800-124428400	Strong transcription	Brain Germinal Matrix	brain
5	chr12:124418000-124428400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:124418000-124431000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:124418200-124427800	Strong transcription	Fetal Brain Female	brain
8	chr12:124418200-124430800	Strong transcription	Stomach Smooth Muscle	stomach
9	chr12:124418200-124431400	Strong transcription	Fetal Stomach	stomach
10	chr12:124418600-124430800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:124419000-124428400	Strong transcription	Fetal Muscle Leg	muscle
12	chr12:124420200-124433000	Weak transcription	Small Intestine	intestine
13	chr12:124420600-124430800	Strong transcription	Pancreas	Pancrea
14	chr12:124420800-124427800	Strong transcription	Right Ventricle	heart
15	chr12:124420800-124432600	Weak transcription	HepG2	liver
16	chr12:124421000-124430600	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:124421600-124427600	Weak transcription	Brain Angular Gyrus	brain
18	chr12:124422400-124439200	Weak transcription	Psoas Muscle	Psoas
19	chr12:124423000-124432800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:124423400-124427800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr12:124423400-124429800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:124423600-124426600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:124423600-124428200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:124423600-124430600	Strong transcription	Liver	Liver
25	chr12:124423600-124430800	Weak transcription	Dnd41	blood
26	chr12:124423600-124431600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:124423600-124442200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:124423800-124426600	Strong transcription	Spleen	Spleen
29	chr12:124423800-124426800	Strong transcription	Fetal Lung	lung
30	chr12:124423800-124428000	Strong transcription	Brain Cingulate Gyrus	brain
31	chr12:124423800-124430600	Strong transcription	Ovary	ovary
32	chr12:124423800-124430600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:124424000-124431200	Strong transcription	Primary T cells from cord blood	blood
34	chr12:124424200-124427400	Strong transcription	Brain Substantia Nigra	brain
35	chr12:124424200-124427600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:124424200-124429200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:124424200-124429400	Strong transcription	Left Ventricle	heart
38	chr12:124424200-124430000	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr12:124424200-124430400	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:124424400-124426600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:124424400-124427000	Strong transcription	Brain Anterior Caudate	brain
42	chr12:124424400-124427000	Strong transcription	Gastric	stomach
43	chr12:124424400-124427400	Strong transcription	Brain Hippocampus Middle	brain
44	chr12:124424600-124428600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:124424600-124430200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:124424800-124430600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:124425200-124428400	Weak transcription	Aorta	Aorta
48	chr12:124425400-124426800	Weak transcription	Colonic Mucosa	Colon
49	chr12:124425400-124427200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:124425400-124428800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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