Variant report

Variant	rs561734282
Chromosome Location	chr12:123757812-123757813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
2	chr12:123753451..123758032-chr12:123846651..123850459,6	MCF-7	breast:
3	chr12:123756475..123758463-chr12:123849452..123851589,2	K562	blood:
4	chr12:123749757..123758492-chr12:123844437..123851411,15	MCF-7	breast:
5	chr12:123755389..123758333-chr12:123866833..123870129,4	K562	blood:

Variant related genes	Relation type
ENSG00000139697	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000183955	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	esv3371786	chr12:123753799-123757997	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
6	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123756800-123758000	Enhancers	Spleen	Spleen
2	chr12:123756800-123758200	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr12:123756800-123758400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:123757200-123758000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:123757200-123758000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:123757200-123758000	Enhancers	Fetal Stomach	stomach
7	chr12:123757200-123759200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:123757200-123761800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:123757200-123762400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:123757200-123762600	Weak transcription	GM12878-XiMat	blood
11	chr12:123757200-123773800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:123757200-123774000	Weak transcription	K562	blood
13	chr12:123757200-123782600	Weak transcription	Right Atrium	heart
14	chr12:123757400-123758000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:123757400-123758000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr12:123757400-123759200	Enhancers	Fetal Brain Male	brain
17	chr12:123757400-123762200	Weak transcription	HUVEC	blood vessel
18	chr12:123757600-123758000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:123757600-123758000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr12:123757600-123758000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:123757600-123758000	Flanking Active TSS	Fetal Brain Female	brain
22	chr12:123757600-123758200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:123757600-123758200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:123757600-123762000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:123757600-123762000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:123757600-123762000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:123757600-123762000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:123757600-123762800	Weak transcription	NH-A	brain
29	chr12:123757600-123773400	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:123757600-123773400	Weak transcription	Fetal Thymus	thymus
31	chr12:123757600-123773800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:123757800-123758000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:123757800-123758000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:123757800-123771400	Weak transcription	A549	lung

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