Variant report

Variant	rs568339744
Chromosome Location	chr3:195059077-195059078
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	POLR2A	chr3:195059074-195059173	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:195055975..195058560-chr3:195058914..195061074,2	K562	blood:
2	chr3:195058126..195060411-chr3:195174177..195176241,2	K562	blood:

Variant related genes	Relation type
ACAP2	TF binding region
ENSG00000114331	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	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
2	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases
3	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
4	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
5	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking 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	21 gene(s)	inside rSNPs	diseases
7	nsv997956	chr3:194879534-195087539	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv536878	chr3:194879534-195087539	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
10	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
11	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
12	nsv1005519	chr3:194964301-195340515	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
14	nsv432512	chr3:195007260-195475989	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
15	nsv526569	chr3:195038287-195123495	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
16	nsv878138	chr3:195057001-195477791	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription 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 miRNA	53 gene(s)	inside rSNPs	diseases
17	nsv878139	chr3:195058837-195158031	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194992600-195090000	Weak transcription	Aorta	Aorta
2	chr3:194993000-195076000	Weak transcription	Fetal Heart	heart
3	chr3:195004000-195066600	Weak transcription	Small Intestine	intestine
4	chr3:195010000-195061000	Weak transcription	Fetal Kidney	kidney
5	chr3:195010000-195076400	Weak transcription	Brain Angular Gyrus	brain
6	chr3:195022600-195073400	Weak transcription	HMEC	breast
7	chr3:195022800-195073400	Weak transcription	NHEK	skin
8	chr3:195034800-195076800	Weak transcription	Psoas Muscle	Psoas
9	chr3:195040400-195062600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:195040400-195064800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:195040400-195066000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:195040400-195076400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr3:195040400-195076600	Weak transcription	Brain Anterior Caudate	brain
14	chr3:195040400-195079400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:195040400-195108400	Weak transcription	Colonic Mucosa	Colon
16	chr3:195040600-195111200	Weak transcription	Fetal Brain Male	brain
17	chr3:195040800-195071200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr3:195040800-195072800	Weak transcription	K562	blood
19	chr3:195040800-195073200	Weak transcription	Pancreas	Pancrea
20	chr3:195040800-195076400	Weak transcription	Brain Hippocampus Middle	brain
21	chr3:195041000-195062600	Weak transcription	Brain Germinal Matrix	brain
22	chr3:195041000-195065400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:195041000-195066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:195041000-195067200	Weak transcription	Brain Substantia Nigra	brain
25	chr3:195041000-195077000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:195041000-195131200	Weak transcription	Gastric	stomach
27	chr3:195041200-195077200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:195041400-195064800	Strong transcription	Primary B cells from cord blood	blood
29	chr3:195041400-195076800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:195041600-195061200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:195041600-195062200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr3:195041600-195071600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr3:195041600-195073600	Weak transcription	NHLF	lung
34	chr3:195041600-195077800	Weak transcription	Fetal Brain Female	brain
35	chr3:195042200-195062400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:195045800-195065200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:195048200-195061200	Weak transcription	NHDF-Ad	bronchial
38	chr3:195048800-195076800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:195049600-195106000	Weak transcription	HUVEC	blood vessel
40	chr3:195050400-195062600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:195051800-195073800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:195051800-195077000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:195052000-195060800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr3:195052000-195061800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:195052000-195062400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr3:195052000-195071400	Weak transcription	HepG2	liver
47	chr3:195052000-195076400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:195052200-195060800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr3:195052200-195060800	Weak transcription	HSMM	muscle
50	chr3:195052200-195070000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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