Variant report

Variant	rs538030779
Chromosome Location	chr3:195929792-195929793
allele	C/T
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	REST	chr3:195929604-195929794	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr3:195929338-195929939	HL-60	blood:	n/a	chr3:195929519-195929532
3	RUNX3	chr3:195929414-195929848	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:

Variant related genes	Relation type
ZDHHC19	TF binding region
ENSG00000072274	Chromatin interaction
ENSG00000252174	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
8	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv998042	chr3:195840858-195934070	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	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
11	nsv878174	chr3:195858887-195949541	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv878175	chr3:195907653-195973244	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1014159	chr3:195908999-195968512	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	esv32936	chr3:195916045-195940827	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv878176	chr3:195926234-195959924	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv878177	chr3:195929268-195949541	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv878178	chr3:195929268-195998451	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv878179	chr3:195929268-196019680	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195920200-195930400	Weak transcription	Esophagus	oesophagus
2	chr3:195920200-195930600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:195921600-195934000	Weak transcription	Right Atrium	heart
4	chr3:195922000-195934200	Weak transcription	Right Ventricle	heart
5	chr3:195923600-195930200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:195923800-195930200	Weak transcription	Spleen	Spleen
7	chr3:195923800-195934200	Weak transcription	Thymus	Thymus
8	chr3:195929000-195929800	Enhancers	K562	blood
9	chr3:195929000-195930400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:195929000-195930800	Enhancers	Placenta	Placenta
11	chr3:195929000-195931600	Enhancers	Primary B cells from cord blood	blood
12	chr3:195929000-195931600	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:195929000-195932000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:195929200-195929800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr3:195929200-195929800	Enhancers	Fetal Muscle Leg	muscle
16	chr3:195929200-195929800	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr3:195929200-195929800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr3:195929200-195929800	Active TSS	Osteobl	bone
19	chr3:195929200-195930200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr3:195929200-195931000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:195929400-195929800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:195929400-195929800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:195929400-195929800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:195929400-195929800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:195929400-195929800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:195929400-195929800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:195929400-195929800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr3:195929400-195929800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:195929400-195929800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:195929400-195929800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:195929400-195929800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:195929400-195929800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr3:195929400-195929800	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:195929400-195929800	Bivalent Enhancer	Fetal Stomach	stomach
35	chr3:195929400-195929800	Flanking Active TSS	Ovary	ovary
36	chr3:195929400-195929800	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr3:195929400-195929800	Enhancers	NH-A	brain
38	chr3:195929400-195930000	Enhancers	Colon Smooth Muscle	Colon
39	chr3:195929400-195930000	Active TSS	Rectal Smooth Muscle	rectum
40	chr3:195929400-195930000	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr3:195929400-195930600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:195929400-195930600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:195929400-195930800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:195929400-195931000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr3:195929400-195931200	Enhancers	GM12878-XiMat	blood
46	chr3:195929600-195929800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr3:195929600-195929800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:195929600-195929800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:195929600-195929800	Enhancers	Primary hematopoietic stem cells	blood
50	chr3:195929600-195929800	Flanking Active TSS	Fetal Lung	lung

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