Variant report

Variant	rs376217731
Chromosome Location	chr12:9113630-9113631
allele	-/ATTATTTCCATT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9103173..9107180-chr12:9112850..9116183,4	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv819596	chr12:9113514-9141537	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1185955	chr12:9113629-9113641	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9103400-9116400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:9103600-9114000	Weak transcription	Fetal Kidney	kidney
3	chr12:9103600-9114200	Weak transcription	Aorta	Aorta
4	chr12:9103600-9114400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:9103600-9114600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:9104000-9114400	Weak transcription	Psoas Muscle	Psoas
7	chr12:9104600-9113800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:9105000-9113800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:9106600-9116000	Weak transcription	Left Ventricle	heart
10	chr12:9106800-9114400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:9106800-9114600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:9108600-9115200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:9109000-9114600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:9109000-9115600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:9109000-9121600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr12:9109400-9113800	Enhancers	Fetal Thymus	thymus
17	chr12:9109600-9114800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:9110600-9114200	Weak transcription	K562	blood
19	chr12:9111000-9115600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:9112200-9116800	Weak transcription	Pancreas	Pancrea
21	chr12:9112600-9113800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:9112600-9113800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:9113200-9113800	Enhancers	HepG2	liver
24	chr12:9113200-9114200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr12:9113400-9113800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:9113400-9113800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:9113400-9114600	Enhancers	Primary T cells from cord blood	blood
28	chr12:9113400-9115000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr12:9113600-9113800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr12:9113600-9115000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:9113600-9116000	Weak transcription	Thymus	Thymus

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