Variant report

Variant	rs13424588
Chromosome Location	chr2:39643360-39643361
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:39635276..39637954-chr2:39640941..39644825,4	K562	blood:
2	chr2:39643207..39646078-chr2:39648407..39650074,2	K562	blood:
3	chr2:39635451..39641229-chr2:39641645..39645299,6	MCF-7	breast:
4	chr2:39635276..39640508-chr2:39640941..39645614,10	K562	blood:
5	chr2:39642838..39645450-chr2:39657928..39659607,2	K562	blood:
6	chr2:39641793..39644089-chr2:39661719..39663882,2	K562	blood:
7	chr2:39642094..39644271-chr2:39644504..39647283,3	K562	blood:
8	chr2:39638402..39640508-chr2:39641916..39643907,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231312	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	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS 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	21 gene(s)	inside rSNPs	diseases
2	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
3	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv2695	chr2:39643221-39688015	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:39622600-39643600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:39622800-39643400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:39632400-39643400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:39633000-39644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:39634600-39643800	Weak transcription	Fetal Brain Female	brain
7	chr2:39635000-39644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:39635600-39643400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:39636600-39651400	Weak transcription	Fetal Thymus	thymus
10	chr2:39637200-39647000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:39637200-39659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:39637600-39643800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:39637600-39651400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:39638800-39644400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:39638800-39652400	Weak transcription	Hela-S3	cervix
16	chr2:39639000-39649000	Weak transcription	Primary T cells from cord blood	blood
17	chr2:39639200-39643400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:39639200-39644800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:39639200-39658000	Weak transcription	Fetal Stomach	stomach
20	chr2:39639400-39643800	Weak transcription	Stomach Mucosa	stomach
21	chr2:39639400-39644000	Weak transcription	Fetal Kidney	kidney
22	chr2:39639600-39643400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:39639600-39646800	Weak transcription	Fetal Lung	lung
24	chr2:39639600-39657200	Weak transcription	HMEC	breast
25	chr2:39640200-39643600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:39640600-39647600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:39640800-39643400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:39640800-39643600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:39640800-39644800	Weak transcription	Pancreas	Pancrea
30	chr2:39640800-39645000	Weak transcription	Gastric	stomach
31	chr2:39640800-39647000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:39640800-39647000	Weak transcription	Spleen	Spleen
33	chr2:39640800-39649200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:39640800-39652400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:39640800-39656800	Weak transcription	NH-A	brain
36	chr2:39640800-39660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:39641000-39643400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:39641000-39643400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:39641000-39643400	Weak transcription	Right Ventricle	heart
40	chr2:39641000-39643400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:39641000-39643400	Weak transcription	Osteobl	bone
42	chr2:39641000-39643600	Weak transcription	Brain Substantia Nigra	brain
43	chr2:39641000-39643600	Weak transcription	GM12878-XiMat	blood
44	chr2:39641000-39643800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:39641000-39644800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:39641000-39644800	Weak transcription	Small Intestine	intestine
47	chr2:39641000-39645000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:39641000-39645200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:39641000-39645400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:39641000-39645600	Weak transcription	Fetal Intestine Small	intestine

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