Variant report

Variant	rs538723840
Chromosome Location	chr3:195111123-195111124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:195106649..195108609-chr3:195109731..195111728,2	K562	blood:

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	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	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	esv1799680	chr3:195060129-195154361	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
17	nsv878141	chr3:195065255-195158031	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv1006229	chr3:195071421-195474751	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
19	esv2754364	chr3:195102703-195553690	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription 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	54 gene(s)	inside rSNPs	diseases
20	esv2757028	chr3:195102787-195479748	Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
21	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
22	nsv878142	chr3:195109866-195143983	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195040600-195111200	Weak transcription	Fetal Brain Male	brain
2	chr3:195041000-195131200	Weak transcription	Gastric	stomach
3	chr3:195052400-195118000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:195065000-195114800	Weak transcription	Osteobl	bone
5	chr3:195074200-195113200	Weak transcription	HSMMtube	muscle
6	chr3:195074800-195118000	Weak transcription	K562	blood
7	chr3:195077400-195118000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:195077800-195114200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:195077800-195117800	Weak transcription	Brain Angular Gyrus	brain
10	chr3:195077800-195122800	Weak transcription	Right Ventricle	heart
11	chr3:195078000-195142200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:195078600-195118000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:195079800-195114400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:195087800-195131200	Weak transcription	NHDF-Ad	bronchial
15	chr3:195088200-195115200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:195088400-195111200	Weak transcription	NH-A	brain
17	chr3:195088600-195146800	Weak transcription	Spleen	Spleen
18	chr3:195090800-195116800	Weak transcription	Aorta	Aorta
19	chr3:195091400-195116200	Weak transcription	Liver	Liver
20	chr3:195093600-195114800	Weak transcription	Lung	lung
21	chr3:195093800-195114800	Weak transcription	Ovary	ovary
22	chr3:195094800-195161200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:195095200-195111200	Weak transcription	Fetal Stomach	stomach
24	chr3:195095200-195116800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr3:195095200-195161800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:195095800-195134200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:195100000-195113200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr3:195100400-195111200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:195100600-195117000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:195101800-195122200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:195102200-195114400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr3:195102400-195114800	Weak transcription	Psoas Muscle	Psoas
33	chr3:195102600-195114400	Weak transcription	Dnd41	blood
34	chr3:195102600-195114800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:195102600-195114800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:195102600-195115000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:195102600-195115400	Weak transcription	Adipose Nuclei	Adipose
38	chr3:195102600-195118000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr3:195102600-195129800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:195102800-195112200	Weak transcription	GM12878-XiMat	blood
41	chr3:195102800-195115400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:195103200-195111600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:195103800-195117400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr3:195105400-195115400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr3:195106000-195118000	Weak transcription	Small Intestine	intestine
46	chr3:195106600-195113200	Weak transcription	HMEC	breast
47	chr3:195106600-195114000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr3:195106600-195117600	Weak transcription	NHLF	lung
49	chr3:195106600-195118000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:195106600-195137800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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