Variant report

Variant	rs587605044
Chromosome Location	chr3:50409629-50409630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50407190..50409972-chr3:50577719..50580221,2	K562	blood:
2	chr3:50407737..50410112-chr3:50424315..50425913,2	K562	blood:
3	chr3:50407329..50410054-chr3:50589199..50591435,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
6	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
8	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
9	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
10	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
11	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
12	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
14	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
15	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
16	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
17	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
18	nsv590259	chr3:50408398-50411819	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50403200-50417200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:50403400-50410000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:50403800-50409800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:50403800-50409800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:50403800-50410000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:50404000-50409800	Weak transcription	Thymus	Thymus
7	chr3:50404200-50410600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:50404600-50409800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr3:50404600-50410000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:50404600-50415400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:50405000-50409800	Weak transcription	Primary T cells from cord blood	blood
12	chr3:50405000-50416400	Weak transcription	Gastric	stomach
13	chr3:50405200-50409800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr3:50405600-50409800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr3:50405600-50410000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr3:50405800-50411200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:50406000-50411000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:50406800-50409800	Weak transcription	Spleen	Spleen
19	chr3:50407200-50410600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:50407400-50413400	Enhancers	Brain Germinal Matrix	brain
21	chr3:50407600-50411000	Enhancers	Fetal Muscle Leg	muscle
22	chr3:50408000-50410200	Enhancers	K562	blood
23	chr3:50408200-50410800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:50408200-50411000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:50408200-50411000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:50408400-50410800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr3:50408400-50411400	Enhancers	Fetal Stomach	stomach
28	chr3:50408400-50413200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:50408600-50413000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:50408800-50410000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:50408800-50410000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:50408800-50410200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:50408800-50410400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:50408800-50411000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr3:50408800-50412000	Weak transcription	Lung	lung
36	chr3:50408800-50413000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:50408800-50423800	Weak transcription	Fetal Brain Female	brain
38	chr3:50409000-50410000	Weak transcription	Fetal Lung	lung
39	chr3:50409000-50419600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:50409200-50420200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:50409400-50410600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:50409400-50410800	Enhancers	A549	lung
43	chr3:50409400-50412200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr3:50409400-50412800	Enhancers	Fetal Thymus	thymus
45	chr3:50409600-50410200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr3:50409600-50410200	Enhancers	Duodenum Mucosa	Duodenum
47	chr3:50409600-50410400	Enhancers	Fetal Intestine Large	intestine
48	chr3:50409600-50410400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr3:50409600-50410400	Bivalent Enhancer	HepG2	liver
50	chr3:50409600-50410800	Enhancers	Fetal Intestine Small	intestine

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