Variant report

Variant	rs563270202
Chromosome Location	chr3:194827324-194827325
allele	A/C
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194649753..194650272-chr3:194826865..194827380,2	K562	blood:
2	chr3:194403071..194403964-chr3:194826998..194827844,5	MCF-7	breast:
3	chr3:194822394..194825195-chr3:194825824..194828590,3	K562	blood:
4	chr3:194405402..194408792-chr3:194825129..194828912,5	MCF-7	breast:
5	chr3:194755717..194756712-chr3:194826887..194827939,8	MCF-7	breast:
6	chr3:194722310..194723268-chr3:194826858..194827831,7	MCF-7	breast:
7	chr3:194755811..194756606-chr3:194827245..194827766,2	MCF-7	breast:
8	chr3:194750132..194752795-chr3:194825393..194827376,2	MCF-7	breast:
9	chr3:194721395..194723219-chr3:194825772..194828111,2	MCF-7	breast:
10	chr3:194825282..194827537-chr3:194865128..194866939,2	K562	blood:
11	chr3:194725498..194726699-chr3:194826761..194827799,4	MCF-7	breast:
12	chr3:194722742..194723422-chr3:194826877..194827390,2	MCF-7	breast:
13	chr3:194392238..194392827-chr3:194826810..194827674,3	MCF-7	breast:
14	chr3:194826945..194827704-chr3:194947760..194948487,2	MCF-7	breast:
15	chr3:194403076..194403838-chr3:194826818..194828013,5	MCF-7	breast:
16	chr3:194818492..194820858-chr3:194824605..194827345,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185112	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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 miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	esv1813153	chr3:194754532-194851746	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878136	chr3:194779412-194845226	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
11	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
12	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
13	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
14	nsv963494	chr3:194826599-194833987	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194814600-194827800	Enhancers	Fetal Heart	heart
2	chr3:194815800-194830200	Weak transcription	Primary T cells from cord blood	blood
3	chr3:194816000-194830000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:194817200-194831200	Weak transcription	Gastric	stomach
5	chr3:194818200-194828800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:194820800-194827600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:194821200-194827800	Enhancers	HUVEC	blood vessel
8	chr3:194822000-194846600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:194823200-194827800	Enhancers	Fetal Intestine Large	intestine
10	chr3:194823600-194831200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:194823800-194833200	Weak transcription	HSMM	muscle
12	chr3:194824000-194827400	Weak transcription	NHEK	skin
13	chr3:194824000-194831000	Weak transcription	HSMMtube	muscle
14	chr3:194824000-194838800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:194824400-194827600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:194824600-194827800	Enhancers	Fetal Thymus	thymus
17	chr3:194825000-194827400	Weak transcription	NHDF-Ad	bronchial
18	chr3:194825400-194830000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:194825400-194830200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:194825400-194830400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:194825600-194827400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:194825800-194830000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:194825800-194838400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:194826000-194827600	Flanking Active TSS	HepG2	liver
25	chr3:194826000-194827800	Enhancers	Fetal Lung	lung
26	chr3:194826400-194827600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:194826400-194827600	Enhancers	Primary B cells from cord blood	blood
28	chr3:194826400-194827600	Enhancers	Primary hematopoietic stem cells	blood
29	chr3:194826400-194827600	Enhancers	Stomach Mucosa	stomach
30	chr3:194826600-194827400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr3:194826600-194835800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:194826800-194827400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:194826800-194827600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:194826800-194827600	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr3:194826800-194827600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr3:194826800-194827600	Enhancers	Duodenum Mucosa	Duodenum
37	chr3:194826800-194827600	Enhancers	Thymus	Thymus
38	chr3:194826800-194827600	Enhancers	Spleen	Spleen
39	chr3:194826800-194827800	Enhancers	Primary B cells from peripheral blood	blood
40	chr3:194826800-194827800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr3:194826800-194828000	Enhancers	Fetal Stomach	stomach
42	chr3:194826800-194838600	Weak transcription	Hela-S3	cervix
43	chr3:194827000-194827400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr3:194827000-194827400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr3:194827000-194827400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:194827000-194827400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:194827000-194827400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr3:194827000-194827400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:194827000-194827400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:194827000-194827400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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