Variant report

Variant	rs550438360
Chromosome Location	chr4:752418-752419
allele	C/G
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	JUND	chr4:752012-752612	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:752034-752490	K562	blood:	n/a	n/a
3	SP1	chr4:751991-753736	K562	blood:	n/a	n/a
4	JUND	chr4:752012-752518	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr4:751861-752671	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr4:752226-752457	K562	blood:	n/a	n/a
7	SP1	chr4:751874-752600	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000272588	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	esv1833383	chr4:708887-753697	Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv878253	chr4:708932-771587	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	nsv878254	chr4:708932-899143	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv878255	chr4:708932-1052488	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	44 gene(s)	inside rSNPs	diseases
16	nsv878257	chr4:712222-852313	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv878258	chr4:712222-1058358	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
18	nsv878259	chr4:713920-852313	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
19	nsv878260	chr4:713920-1052488	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv4195	chr4:727187-768059	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
21	esv1833385	chr4:738603-753697	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv966467	chr4:744990-760620	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
23	esv3515701	chr4:749002-754800	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	esv3515702	chr4:749002-754800	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	esv3517788	chr4:751652-754800	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	esv3517789	chr4:751652-754800	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
27	nsv513113	chr4:751795-753761	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	esv3436991	chr4:751802-754350	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
29	nsv10418	chr4:752002-755765	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
30	esv18844	chr4:752085-753790	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	esv1819046	chr4:752188-753697	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv1843821	chr4:752210-753716	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	esv1829385	chr4:752295-753697	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:702200-754800	Weak transcription	Hela-S3	cervix
2	chr4:727000-767600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:728600-755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:728600-763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:729000-754600	Weak transcription	Fetal Kidney	kidney
6	chr4:729000-762600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:729600-753800	Weak transcription	Psoas Muscle	Psoas
8	chr4:729600-760800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:733600-753800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:741400-752800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:741400-752800	Strong transcription	Fetal Thymus	thymus
12	chr4:741600-752800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:742600-754400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:742600-763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:742800-754200	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:742800-756200	Weak transcription	Stomach Mucosa	stomach
17	chr4:742800-764000	Weak transcription	Small Intestine	intestine
18	chr4:744200-754800	Weak transcription	NHEK	skin
19	chr4:744400-753800	Weak transcription	A549	lung
20	chr4:744400-763400	Weak transcription	Right Atrium	heart
21	chr4:744600-753800	Weak transcription	HUVEC	blood vessel
22	chr4:744600-754000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:745400-754800	Weak transcription	NHDF-Ad	bronchial
24	chr4:745600-752800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:746000-753800	Weak transcription	Fetal Heart	heart
26	chr4:746000-753800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:746000-754400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:746000-773800	Weak transcription	Fetal Brain Male	brain
29	chr4:746200-754400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:746200-758600	Weak transcription	Brain Anterior Caudate	brain
31	chr4:747000-752600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr4:747000-753800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:747000-754400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:747000-756400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:747200-754400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:748200-763400	Weak transcription	Brain Substantia Nigra	brain
37	chr4:749000-753800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:749000-754000	Weak transcription	Primary B cells from cord blood	blood
39	chr4:749000-754400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:749000-754400	Weak transcription	Right Ventricle	heart
41	chr4:749000-754600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:749200-753800	Weak transcription	Primary T cells from cord blood	blood
43	chr4:749200-753800	Weak transcription	Lung	lung
44	chr4:749200-754000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr4:749200-754400	Weak transcription	Left Ventricle	heart
46	chr4:749400-753800	Weak transcription	Colonic Mucosa	Colon
47	chr4:749400-754000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:749400-754200	Weak transcription	Gastric	stomach
49	chr4:749400-754200	Weak transcription	Ovary	ovary
50	chr4:749400-754200	Weak transcription	NHLF	lung

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