Variant report

Variant	rs142503985
Chromosome Location	chr12:21594679-21594680
allele	-/TGTC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:21590817..21593579-chr12:21593991..21595948,2	MCF-7	breast:
2	chr12:21589203..21592796-chr12:21593700..21598591,5	MCF-7	breast:
3	chr12:21591250..21594769-chr12:21604296..21607496,3	K562	blood:
4	chr12:21594525..21596330-chr12:21596660..21599628,2	K562	blood:
5	chr12:21489978..21491916-chr12:21593209..21595561,2	K562	blood:

Variant related genes	Relation type
ENSG00000121350	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898895	chr12:21561645-21621891	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	esv3352375	chr12:21594269-21594698	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21591400-21594800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:21591400-21594800	Weak transcription	Esophagus	oesophagus
3	chr12:21591400-21594800	Weak transcription	Gastric	stomach
4	chr12:21591400-21594800	Weak transcription	Left Ventricle	heart
5	chr12:21591400-21594800	Weak transcription	Lung	lung
6	chr12:21591400-21594800	Weak transcription	Spleen	Spleen
7	chr12:21591400-21595400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:21591400-21602800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:21591600-21594800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:21591600-21594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:21591600-21594800	Weak transcription	Aorta	Aorta
12	chr12:21591600-21594800	Weak transcription	Brain Germinal Matrix	brain
13	chr12:21591600-21594800	Weak transcription	Colonic Mucosa	Colon
14	chr12:21591600-21594800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:21591600-21594800	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:21591600-21594800	Weak transcription	Pancreas	Pancrea
17	chr12:21591600-21598600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:21591600-21599600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:21591600-21609000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:21591600-21609000	Weak transcription	Brain Angular Gyrus	brain
21	chr12:21591600-21609200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:21591800-21594800	Weak transcription	Fetal Thymus	thymus
23	chr12:21591800-21594800	Weak transcription	Right Ventricle	heart
24	chr12:21591800-21595000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:21591800-21595000	Weak transcription	Fetal Brain Female	brain
26	chr12:21591800-21598600	Weak transcription	Fetal Brain Male	brain
27	chr12:21591800-21599000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:21591800-21600000	Weak transcription	HSMM	muscle
29	chr12:21591800-21601000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:21591800-21609000	Weak transcription	Fetal Heart	heart
31	chr12:21591800-21611000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:21591800-21614600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:21591800-21614800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:21591800-21621000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:21591800-21624200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr12:21592000-21594800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:21592000-21594800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr12:21592000-21594800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:21592000-21594800	Weak transcription	Osteobl	bone
40	chr12:21592000-21597800	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:21592000-21614200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:21592000-21620600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:21592000-21631000	Weak transcription	Psoas Muscle	Psoas
44	chr12:21592200-21594800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:21592200-21594800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:21592200-21594800	Weak transcription	NHLF	lung
47	chr12:21592200-21595000	Weak transcription	Stomach Mucosa	stomach
48	chr12:21592200-21595000	Weak transcription	HSMMtube	muscle
49	chr12:21592200-21596600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:21592200-21598400	Weak transcription	Fetal Kidney	kidney

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