Variant report

Variant	rs12693541
Chromosome Location	chr2:190418690-190418691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190410141..190412084-chr2:190417129..190419096,2	K562	blood:
2	chr2:190410050..190411641-chr2:190416605..190419096,2	K562	blood:
3	chr2:190414866..190419977-chr2:190441095..190445782,6	K562	blood:
4	chr2:190411762..190417364-chr2:190417405..190425188,8	MCF-7	breast:
5	chr2:190418477..190421853-chr2:190444282..190447899,4	K562	blood:
6	chr2:190417267..190420213-chr2:190420232..190423060,2	K562	blood:
7	chr2:190416454..190421330-chr2:190422959..190427410,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138449	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12466208	0.86[JPT][hapmap]
rs12466217	0.88[JPT][hapmap]
rs2304704	0.88[JPT][hapmap]
rs4145237	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12693541	HIBCH	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190407400-190424200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:190408200-190420600	Weak transcription	Small Intestine	intestine
3	chr2:190408800-190422400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:190411200-190420600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:190413000-190424200	Weak transcription	Fetal Heart	heart
6	chr2:190414000-190424600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:190414200-190419000	Weak transcription	Placenta	Placenta
8	chr2:190414200-190420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:190414200-190420600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:190414200-190422600	Weak transcription	HMEC	breast
11	chr2:190414200-190422800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:190414200-190423200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:190414400-190419000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:190414400-190419600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:190414400-190422400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:190414600-190424200	Weak transcription	Dnd41	blood
17	chr2:190415000-190423400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:190415200-190423200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:190415200-190423200	Weak transcription	Fetal Stomach	stomach
20	chr2:190415200-190424200	Weak transcription	NHDF-Ad	bronchial
21	chr2:190415200-190426400	Weak transcription	HSMMtube	muscle
22	chr2:190415400-190428400	Weak transcription	HSMM	muscle
23	chr2:190416000-190421800	Enhancers	Fetal Intestine Small	intestine
24	chr2:190416200-190425200	Enhancers	HepG2	liver
25	chr2:190416400-190422200	Enhancers	Fetal Intestine Large	intestine
26	chr2:190416800-190420600	Weak transcription	Right Ventricle	heart
27	chr2:190416800-190423600	Weak transcription	Left Ventricle	heart
28	chr2:190417000-190431000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:190417200-190419000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr2:190417200-190419000	Weak transcription	Ovary	ovary
31	chr2:190417200-190420600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:190417200-190425000	Enhancers	Liver	Liver
33	chr2:190417400-190433600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:190417600-190420000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:190417800-190419600	Weak transcription	Aorta	Aorta
36	chr2:190417800-190420000	Weak transcription	Osteobl	bone
37	chr2:190417800-190420200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:190417800-190422400	Weak transcription	Fetal Kidney	kidney
39	chr2:190417800-190422800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:190417800-190426200	Weak transcription	K562	blood
41	chr2:190418000-190420600	Weak transcription	Fetal Brain Male	brain
42	chr2:190418200-190419000	Flanking Active TSS	A549	lung
43	chr2:190418200-190420000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:190418200-190420200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:190418200-190420200	Weak transcription	NHEK	skin
46	chr2:190418200-190422800	Weak transcription	Adipose Nuclei	Adipose
47	chr2:190418200-190424200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:190418400-190420000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:190418400-190422200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr2:190418600-190419600	Weak transcription	Rectal Mucosa Donor 31	rectum

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