Variant report

Variant	rs4383449
Chromosome Location	chr3:194780518-194780519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194778550..194782290-chr3:194783787..194785539,3	K562	blood:
2	chr3:194779827..194782104-chr3:194805919..194808350,2	MCF-7	breast:
3	chr3:194779671..194783276-chr3:194783920..194787237,3	K562	blood:
4	chr3:194778235..194781013-chr3:194783176..194785449,3	MCF-7	breast:
5	chr3:194772498..194774182-chr3:194778743..194781553,2	K562	blood:
6	chr3:194778538..194781449-chr3:194803354..194805108,2	K562	blood:

Variant related genes	Relation type
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948797	chr3:194232753-194789163	Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	esv1847174	chr3:194763601-194792415	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv592968	chr3:194775336-194787534	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	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
11	esv12989	chr3:194780462-194781067	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194774200-194787400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:194776200-194787800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:194776400-194783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:194778400-194782600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr3:194778800-194780600	Enhancers	Fetal Muscle Leg	muscle
6	chr3:194779000-194780600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:194779000-194780600	Enhancers	HUVEC	blood vessel
8	chr3:194779000-194781400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:194779000-194808000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:194779200-194780600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:194779200-194780600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr3:194779200-194781600	Bivalent Enhancer	Fetal Stomach	stomach
13	chr3:194779400-194780600	Enhancers	Fetal Thymus	thymus
14	chr3:194779400-194781200	Enhancers	Fetal Intestine Small	intestine
15	chr3:194779400-194781400	Enhancers	Spleen	Spleen
16	chr3:194779600-194783400	Weak transcription	Fetal Heart	heart
17	chr3:194779800-194780600	Enhancers	Lung	lung
18	chr3:194780000-194781000	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr3:194780000-194781200	Enhancers	Stomach Smooth Muscle	stomach
20	chr3:194780000-194781400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:194780000-194788800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr3:194780200-194781200	Weak transcription	Left Ventricle	heart
23	chr3:194780200-194781200	Weak transcription	Right Ventricle	heart
24	chr3:194780200-194781200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:194780200-194783200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:194780200-194783600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:194780200-194784000	Weak transcription	Esophagus	oesophagus
28	chr3:194780200-194784200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:194780200-194784200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:194780200-194800000	Weak transcription	Right Atrium	heart
31	chr3:194780400-194780800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:194780400-194781000	Enhancers	Colonic Mucosa	Colon
33	chr3:194780400-194781000	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr3:194780400-194781200	Enhancers	Fetal Intestine Large	intestine
35	chr3:194780400-194784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:194780400-194784400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:194780400-194788600	Weak transcription	Primary monocytes fromperipheralblood	blood

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