Variant report

Variant	rs201053256
Chromosome Location	chr12:122114814-122114815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122064532..122066691-chr12:122114264..122115778,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182500	Chromatin interaction

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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv527988	chr12:122114593-122116794	Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122103200-122116000	Weak transcription	K562	blood
2	chr12:122111200-122116200	Weak transcription	Brain Germinal Matrix	brain
3	chr12:122111400-122116000	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:122111400-122116200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:122111400-122116400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:122111400-122116800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:122111400-122116800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:122111400-122116800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:122111400-122116800	Weak transcription	Fetal Thymus	thymus
10	chr12:122111400-122117000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:122111400-122117000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:122111400-122117000	Weak transcription	Thymus	Thymus
13	chr12:122111400-122124200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:122111400-122124400	Weak transcription	Brain Anterior Caudate	brain
15	chr12:122111400-122124800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:122111600-122116600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:122111600-122116600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:122111600-122116800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:122111600-122116800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:122111600-122116800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:122111600-122117000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:122111600-122117000	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:122111600-122119800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:122111600-122124600	Weak transcription	Fetal Kidney	kidney
25	chr12:122111800-122117200	Weak transcription	Brain Substantia Nigra	brain
26	chr12:122112800-122116600	Weak transcription	Placenta	Placenta
27	chr12:122113000-122117000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:122114600-122116400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:122114600-122117000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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