Variant report

Variant	rs565380536
Chromosome Location	chr3:196043222-196043223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:196042901-196043690	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:196042697-196043923	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:196038442..196040771-chr3:196041248..196043484,3	K562	blood:
2	chr3:196043015..196047197-chr3:196061951..196068288,11	K562	blood:
3	chr3:196043128..196045052-chr3:196273376..196275560,2	MCF-7	breast:
4	chr3:196012377..196016502-chr3:196041586..196047553,11	K562	blood:
5	chr3:196035189..196038386-chr3:196041731..196043557,3	K562	blood:
6	chr3:196036607..196038386-chr3:196041731..196043557,2	K562	blood:
7	chr3:196040934..196046683-chr3:196067954..196076269,13	MCF-7	breast:
8	chr3:196030106..196032154-chr3:196042449..196045068,2	K562	blood:
9	chr3:196043015..196046706-chr3:196061951..196066451,7	K562	blood:
10	chr3:196038505..196041350-chr3:196041984..196044639,3	K562	blood:
11	chr3:196013508..196016403-chr3:196043043..196046288,6	MCF-7	breast:

No data

Variant related genes	Relation type
TM4SF19-AS1	TF binding region
ENSG00000212146	Chromatin interaction
ENSG00000273331	Chromatin interaction
ENSG00000161217	Chromatin interaction
ENSG00000145107	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
6	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
8	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
9	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
10	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
11	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
12	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv878180	chr3:195946535-196066569	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv878181	chr3:195946535-196072442	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
15	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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 miRNA target site	64 gene(s)	inside rSNPs	diseases
16	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
17	nsv878182	chr3:195974181-196228360	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
18	nsv1003764	chr3:196028141-196190687	Weak transcription ZNF genes & repeats Enhancers Strong transcription 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	30 gene(s)	inside rSNPs	diseases
19	nsv536895	chr3:196028141-196190687	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
20	nsv4183	chr3:196034067-196079109	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	esv3407163	chr3:196042555-196045153	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
22	esv3389071	chr3:196042555-196045453	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196015200-196044400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:196015400-196043800	Weak transcription	Brain Substantia Nigra	brain
3	chr3:196015400-196043800	Weak transcription	Fetal Kidney	kidney
4	chr3:196015400-196043800	Weak transcription	Fetal Lung	lung
5	chr3:196015400-196044400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:196015400-196044400	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:196015400-196044400	Weak transcription	Lung	lung
8	chr3:196015600-196043600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:196015600-196043600	Weak transcription	Fetal Brain Male	brain
10	chr3:196015600-196043800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:196015600-196043800	Weak transcription	Brain Angular Gyrus	brain
12	chr3:196015600-196044200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:196015600-196044200	Weak transcription	Adipose Nuclei	Adipose
14	chr3:196015600-196044400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:196015800-196043400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:196015800-196043600	Weak transcription	A549	lung
17	chr3:196015800-196043800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:196015800-196043800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:196015800-196043800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:196015800-196043800	Weak transcription	HSMM	muscle
21	chr3:196015800-196044200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:196015800-196044400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:196016000-196043600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr3:196016000-196043600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:196018600-196044200	Weak transcription	Fetal Intestine Large	intestine
26	chr3:196023200-196044400	Weak transcription	Left Ventricle	heart
27	chr3:196023400-196044400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:196024800-196043600	Weak transcription	GM12878-XiMat	blood
29	chr3:196025200-196044400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:196025600-196043800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:196026400-196044200	Weak transcription	Placenta	Placenta
32	chr3:196027400-196043800	Weak transcription	Thymus	Thymus
33	chr3:196027800-196044200	Weak transcription	Fetal Intestine Small	intestine
34	chr3:196028200-196043800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:196029000-196044200	Weak transcription	Brain Anterior Caudate	brain
36	chr3:196029400-196043600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:196029600-196043600	Weak transcription	Osteobl	bone
38	chr3:196029600-196043800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:196029600-196043800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:196030200-196044200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:196030600-196043600	Weak transcription	NHDF-Ad	bronchial
42	chr3:196030600-196043800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:196031200-196043600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:196031200-196043800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr3:196031400-196044200	Weak transcription	Fetal Thymus	thymus
46	chr3:196031400-196044400	Weak transcription	Right Atrium	heart
47	chr3:196031600-196044400	Weak transcription	Primary T cells from cord blood	blood
48	chr3:196032000-196043800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:196032400-196043600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:196033000-196043600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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