Variant report

Variant	rs558395934
Chromosome Location	chr2:32079252-32079253
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr2:32079222-32079299	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA3	chr2:32079161-32079422	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000273165	TF binding region

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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	esv1801791	chr2:32077901-32120807	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32054400-32080000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:32054600-32090400	Weak transcription	HSMM	muscle
3	chr2:32057200-32117200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:32063000-32092000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:32064600-32142400	Weak transcription	NHDF-Ad	bronchial
7	chr2:32065000-32084800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:32065400-32088400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:32065400-32123000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:32066200-32081200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:32066600-32100600	Weak transcription	Primary T cells from cord blood	blood
12	chr2:32066800-32101800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:32066800-32103400	Weak transcription	Fetal Thymus	thymus
14	chr2:32067000-32106200	Weak transcription	Left Ventricle	heart
15	chr2:32067200-32106000	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:32067600-32089600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:32067800-32092000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:32067800-32103400	Weak transcription	HMEC	breast
19	chr2:32068000-32088600	Weak transcription	NH-A	brain
20	chr2:32068000-32121400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:32068200-32079600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:32068400-32088600	Weak transcription	Liver	Liver
23	chr2:32068400-32089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:32068400-32106800	Weak transcription	Ovary	ovary
25	chr2:32068400-32115400	Weak transcription	NHEK	skin
26	chr2:32068400-32121400	Weak transcription	Fetal Brain Female	brain
27	chr2:32068600-32088800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:32068600-32089600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:32068600-32100200	Weak transcription	A549	lung
30	chr2:32068600-32101800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:32068800-32101000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:32068800-32106800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:32069000-32116600	Weak transcription	Osteobl	bone
34	chr2:32070600-32086800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:32071000-32115400	Weak transcription	Placenta	Placenta
36	chr2:32071200-32089200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:32071400-32106000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:32071600-32106000	Weak transcription	Fetal Stomach	stomach
39	chr2:32071800-32116000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:32072600-32101800	Weak transcription	Fetal Intestine Small	intestine
41	chr2:32072600-32111800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:32073000-32091400	Weak transcription	Pancreas	Pancrea
43	chr2:32073200-32085200	Weak transcription	HUVEC	blood vessel
44	chr2:32073200-32102000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:32073600-32103000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:32074200-32095200	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:32074600-32127000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:32075800-32170000	Weak transcription	Aorta	Aorta
49	chr2:32077200-32081400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:32077200-32115000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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