Variant report

Variant	rs13389891
Chromosome Location	chr2:55494033-55494034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55480148..55483393-chr2:55492366..55494655,3	K562	blood:
2	chr2:55457538..55465596-chr2:55493335..55497971,13	MCF-7	breast:
3	chr2:55491409..55498987-chr2:55507178..55511380,11	MCF-7	breast:
4	chr12:120728776..120730953-chr2:55493561..55496361,2	MCF-7	breast:
5	chr2:55493189..55494879-chr2:55494974..55496543,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085760	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000162994	Chromatin interaction
ENSG00000162997	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10221664	1.00[AMR][1000 genomes]

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	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3348896	chr2:55429540-55498552	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3502708	chr2:55481350-55506212	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3502709	chr2:55481350-55506212	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv525025	chr2:55483020-55505456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv874157	chr2:55483020-55571085	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55461600-55495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:55461600-55495400	Weak transcription	Stomach Mucosa	stomach
3	chr2:55461800-55495000	Weak transcription	Fetal Brain Male	brain
4	chr2:55463000-55495400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:55463800-55494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:55463800-55495600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:55464600-55495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:55465600-55494400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:55468400-55494400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:55468600-55494400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:55468800-55494400	Strong transcription	Adipose Nuclei	Adipose
12	chr2:55468800-55494400	Strong transcription	Liver	Liver
13	chr2:55470800-55494200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:55472000-55495200	Weak transcription	Psoas Muscle	Psoas
15	chr2:55476000-55495400	Weak transcription	HUVEC	blood vessel
16	chr2:55476600-55495400	Weak transcription	Aorta	Aorta
17	chr2:55476600-55495400	Weak transcription	Fetal Heart	heart
18	chr2:55476600-55495600	Weak transcription	Esophagus	oesophagus
19	chr2:55476800-55495400	Weak transcription	Fetal Kidney	kidney
20	chr2:55478400-55494800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:55478800-55494200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:55480000-55495400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:55480400-55495600	Weak transcription	Brain Substantia Nigra	brain
24	chr2:55481400-55495400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:55481400-55495400	Weak transcription	Fetal Lung	lung
26	chr2:55481600-55495400	Weak transcription	NHDF-Ad	bronchial
27	chr2:55482800-55494600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:55483000-55494400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:55483000-55494600	Strong transcription	Fetal Intestine Small	intestine
30	chr2:55483000-55494600	Strong transcription	Fetal Stomach	stomach
31	chr2:55483200-55494800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:55484600-55494400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:55484800-55494400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:55485200-55494400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr2:55486600-55494800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:55487200-55495400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:55488000-55495400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:55489000-55494400	Strong transcription	A549	lung
39	chr2:55489600-55495000	Weak transcription	Hela-S3	cervix
40	chr2:55489600-55495400	Weak transcription	NH-A	brain
41	chr2:55490200-55494800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr2:55490600-55495600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:55491000-55495400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:55491000-55495400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:55491000-55495400	Weak transcription	Brain Germinal Matrix	brain
46	chr2:55491000-55495400	Weak transcription	Right Ventricle	heart
47	chr2:55491400-55495600	Weak transcription	Ovary	ovary
48	chr2:55491600-55495400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:55491600-55495400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr2:55491600-55495400	Weak transcription	Muscle Satellite Cultured Cells	--

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