Variant report

Variant	rs188640950
Chromosome Location	chr12:123843595-123843596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123841413..123843881-chr12:123847597..123850763,3	MCF-7	breast:
2	chr12:123839316..123842865-chr12:123843251..123845125,3	MCF-7	breast:
3	chr12:123841609..123844454-chr12:123867561..123870497,3	K562	blood:

Variant related genes	Relation type
ENSG00000183955	Chromatin interaction
ENSG00000139697	Chromatin interaction
ENSG00000256092	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	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
2	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
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv899579	chr12:123843017-123901480	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123772400-123847800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:123807600-123845200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:123816000-123847400	Weak transcription	Stomach Mucosa	stomach
4	chr12:123820400-123847000	Weak transcription	Fetal Brain Male	brain
5	chr12:123829000-123847400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:123830000-123847400	Weak transcription	Brain Substantia Nigra	brain
7	chr12:123830000-123847400	Weak transcription	Colonic Mucosa	Colon
8	chr12:123830000-123847400	Weak transcription	NHLF	lung
9	chr12:123830200-123847400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:123830200-123847400	Weak transcription	NHDF-Ad	bronchial
11	chr12:123830200-123847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:123830400-123847600	Weak transcription	Aorta	Aorta
13	chr12:123830600-123847600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:123830800-123844800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:123830800-123846600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:123830800-123847200	Weak transcription	Hela-S3	cervix
17	chr12:123830800-123847200	Weak transcription	HSMMtube	muscle
18	chr12:123832400-123848200	Weak transcription	Esophagus	oesophagus
19	chr12:123832600-123846400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:123832600-123846600	Weak transcription	Spleen	Spleen
21	chr12:123832800-123847000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:123832800-123847000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:123832800-123847200	Weak transcription	Brain Anterior Caudate	brain
24	chr12:123832800-123847400	Weak transcription	Osteobl	bone
25	chr12:123832800-123847800	Weak transcription	Fetal Kidney	kidney
26	chr12:123833000-123847000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:123833000-123847000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:123833800-123847600	Weak transcription	NH-A	brain
29	chr12:123834000-123847000	Weak transcription	Adipose Nuclei	Adipose
30	chr12:123834200-123847000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:123834200-123847400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:123834200-123847400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:123834200-123847400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:123834400-123846400	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:123834600-123847400	Weak transcription	NHEK	skin
36	chr12:123834800-123846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:123834800-123847000	Weak transcription	Placenta	Placenta
38	chr12:123834800-123847600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:123835000-123844400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:123835000-123847400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:123835000-123847400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:123835000-123847400	Weak transcription	Thymus	Thymus
43	chr12:123835000-123847800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:123835000-123848200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:123835200-123847600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:123835400-123847400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:123835400-123847800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:123835400-123847800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:123836000-123848200	Weak transcription	Gastric	stomach
50	chr12:123837400-123847200	Weak transcription	Primary monocytes fromperipheralblood	blood

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