Variant report

Variant	rs373398621
Chromosome Location	chr2:96010830-96010831
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:96010737-96012375	IMR90	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:95993761..95997355-chr2:96009051..96012049,3	K562	blood:
2	chr2:95936957..95940788-chr2:96009231..96012475,5	MCF-7	breast:
3	chr2:96009340..96011395-chr2:96014535..96017221,2	K562	blood:
4	chr2:95926758..95928320-chr2:96008890..96011843,2	K562	blood:
5	chr2:96004290..96007822-chr2:96008274..96011100,3	K562	blood:
6	chr2:95988380..95990496-chr2:96009611..96012136,2	K562	blood:

No data

Variant related genes	Relation type
KCNIP3	TF binding region
ENSG00000155066	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv528011	chr2:95931218-96057011	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv482871	chr2:95936531-96036880	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv998543	chr2:95979772-96074212	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv535825	chr2:95979772-96074212	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv582496	chr2:95999856-96020029	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv829578	chr2:96010192-96015186	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv3321815	chr2:96010750-96013598	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96008600-96011000	Enhancers	HMEC	breast
2	chr2:96008800-96011200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:96009000-96011000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:96009000-96011000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:96009200-96011000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:96009200-96011200	Enhancers	NHEK	skin
7	chr2:96010000-96011400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:96010400-96011000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:96010600-96011000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:96010600-96011000	Bivalent Enhancer	Fetal Kidney	kidney
11	chr2:96010800-96011000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:96010800-96011000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:96010800-96011000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr2:96010800-96011000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:96010800-96011000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:96010800-96011000	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr2:96010800-96011000	Enhancers	Aorta	Aorta
18	chr2:96010800-96011000	Enhancers	Brain Angular Gyrus	brain
19	chr2:96010800-96011000	Enhancers	Brain Anterior Caudate	brain
20	chr2:96010800-96011000	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:96010800-96011000	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr2:96010800-96011000	Enhancers	Brain Hippocampus Middle	brain
23	chr2:96010800-96011000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:96010800-96011000	Bivalent Enhancer	Colon Smooth Muscle	Colon
25	chr2:96010800-96011000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
26	chr2:96010800-96011000	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr2:96010800-96011000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr2:96010800-96011000	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr2:96010800-96011000	Bivalent Enhancer	Fetal Stomach	stomach
30	chr2:96010800-96011000	Bivalent Enhancer	Rectal Smooth Muscle	rectum
31	chr2:96010800-96011000	Enhancers	Right Atrium	heart
32	chr2:96010800-96011000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr2:96010800-96011000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr2:96010800-96011000	Enhancers	Hela-S3	cervix
35	chr2:96010800-96011000	Bivalent Enhancer	NH-A	brain
36	chr2:96010800-96011200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:96010800-96011200	Bivalent Enhancer	Primary B cells from cord blood	blood
38	chr2:96010800-96011200	Bivalent Enhancer	Primary T cells from cord blood	blood
39	chr2:96010800-96011200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr2:96010800-96011200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
41	chr2:96010800-96011200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr2:96010800-96011200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:96010800-96011200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
44	chr2:96010800-96011200	Bivalent Enhancer	NHDF-Ad	bronchial
45	chr2:96010800-96011400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr2:96010800-96011400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:96010800-96011400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
48	chr2:96010800-96011400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:96010800-96011400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:96010800-96011400	Flanking Active TSS	Stomach Smooth Muscle	stomach

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