Variant report

Variant	rs368795625
Chromosome Location	chr3:194990722-194990723
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194989426..194991874-chr3:195268477..195270198,3	MCF-7	breast:
2	chr3:194990164..194994201-chr3:195268703..195270348,3	K562	blood:
3	chr3:194989462..194991407-chr3:195163007..195164718,2	MCF-7	breast:
4	chr3:194990005..194994037-chr3:194997788..195001012,5	K562	blood:
5	chr3:194979343..194985907-chr3:194989595..194992143,7	K562	blood:
6	chr3:194989967..194994399-chr3:195244037..195248390,6	K562	blood:
7	chr3:194990296..194992305-chr3:195248848..195251348,4	MCF-7	breast:
8	chr3:194979343..194983092-chr3:194989595..194993137,5	K562	blood:
9	chr3:194990545..194994377-chr3:195246139..195250306,5	K562	blood:
10	chr3:194990474..194992109-chr3:195269592..195271685,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000114331	Chromatin interaction
ENSG00000223711	Chromatin interaction
ENSG00000184203	Chromatin interaction
ENSG00000173950	Chromatin interaction
ENSG00000252620	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	esv1818370	chr3:194987569-194995096	Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
17	esv1818606	chr3:194987569-194995096	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
18	nsv592983	chr3:194987569-194995096	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a
19	nsv592984	chr3:194990363-194991844	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194981400-194990800	Weak transcription	Aorta	Aorta
2	chr3:194981800-194991200	Weak transcription	Small Intestine	intestine
3	chr3:194989400-194990800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr3:194989400-194990800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:194989400-194991000	Enhancers	Spleen	Spleen
6	chr3:194989400-194991200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr3:194989600-194990800	Enhancers	Primary B cells from peripheral blood	blood
8	chr3:194989600-194990800	Enhancers	Placenta	Placenta
9	chr3:194989600-194990800	Enhancers	Right Ventricle	heart
10	chr3:194989600-194991000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:194989800-194990800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:194989800-194990800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr3:194989800-194990800	Enhancers	Colonic Mucosa	Colon
14	chr3:194989800-194990800	Enhancers	Esophagus	oesophagus
15	chr3:194989800-194990800	Enhancers	Gastric	stomach
16	chr3:194989800-194990800	Enhancers	Stomach Mucosa	stomach
17	chr3:194989800-194990800	Flanking Active TSS	HepG2	liver
18	chr3:194990000-194990800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:194990000-194990800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:194990000-194990800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:194990000-194990800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:194990000-194990800	Enhancers	Left Ventricle	heart
23	chr3:194990000-194991000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:194990000-194991000	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr3:194990000-194991000	Flanking Active TSS	Fetal Brain Male	brain
26	chr3:194990000-194991000	Flanking Active TSS	HUVEC	blood vessel
27	chr3:194990000-194991000	Flanking Active TSS	K562	blood
28	chr3:194990000-194991000	Flanking Active TSS	NHEK	skin
29	chr3:194990000-194991200	Flanking Active TSS	Fetal Brain Female	brain
30	chr3:194990000-194991200	Flanking Active TSS	GM12878-XiMat	blood
31	chr3:194990000-194991400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:194990000-194991400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:194990000-194991400	Flanking Active TSS	Dnd41	blood
34	chr3:194990000-194991600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr3:194990200-194990800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr3:194990200-194990800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:194990200-194990800	Enhancers	Fetal Intestine Large	intestine
38	chr3:194990200-194990800	Enhancers	Fetal Lung	lung
39	chr3:194990200-194990800	Enhancers	Psoas Muscle	Psoas
40	chr3:194990200-194990800	Flanking Active TSS	NHDF-Ad	bronchial
41	chr3:194990200-194990800	Flanking Active TSS	NHLF	lung
42	chr3:194990200-194991000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:194990200-194991000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:194990200-194991000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:194990200-194991000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:194990200-194991000	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr3:194990200-194991000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:194990200-194991000	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr3:194990200-194991000	Enhancers	Pancreas	Pancrea
50	chr3:194990200-194991000	Flanking Active TSS	Hela-S3	cervix

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