Variant report

Variant	rs55756427
Chromosome Location	chr4:708805-708806
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:707515..711749-chr4:774319..777090,3	MCF-7	breast:
2	chr4:707355..710100-chr4:713683..715798,2	MCF-7	breast:
3	chr4:707339..709378-chr4:720320..722157,2	MCF-7	breast:
4	chr4:706713..710070-chr4:713256..715563,3	K562	blood:
5	chr4:698386..701329-chr4:707438..709959,2	MCF-7	breast:
6	chr4:707772..710728-chr4:711927..713475,2	MCF-7	breast:
7	chr4:708083..709777-chr4:723545..725767,2	K562	blood:

Variant related genes	Relation type
ENSG00000185619	Chromatin interaction
ENSG00000249592	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv593209	chr4:686563-747810	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv870115	chr4:692811-733794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	11 gene(s)	inside rSNPs	diseases
15	esv3356622	chr4:708052-712350	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv3418074	chr4:708352-711550	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv10213	chr4:708453-711488	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv1002264	chr4:708593-711488	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv3468209	chr4:708727-709917	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv3468210	chr4:708727-709917	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:701200-713400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:701200-713400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:701200-714600	Weak transcription	NHDF-Ad	bronchial
4	chr4:701200-724400	Weak transcription	Aorta	Aorta
5	chr4:701400-714000	Weak transcription	HMEC	breast
6	chr4:701400-715200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:701400-724400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:701400-724800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:701600-716800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:702200-754800	Weak transcription	Hela-S3	cervix
11	chr4:702400-714600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:702400-720000	Weak transcription	Brain Substantia Nigra	brain
13	chr4:702400-720200	Weak transcription	NH-A	brain
14	chr4:702600-715800	Weak transcription	Liver	Liver
15	chr4:702600-716800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:702600-724400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:702800-714600	Weak transcription	Stomach Mucosa	stomach
18	chr4:702800-715000	Weak transcription	GM12878-XiMat	blood
19	chr4:702800-726600	Weak transcription	Primary B cells from cord blood	blood
20	chr4:703000-711400	Weak transcription	Fetal Heart	heart
21	chr4:703000-714000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:703000-714000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:703000-716600	Weak transcription	Fetal Lung	lung
24	chr4:703400-714400	Weak transcription	Primary T cells from cord blood	blood
25	chr4:703400-714800	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:703400-717800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:703400-724800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:703400-726800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:703600-714600	Weak transcription	HUVEC	blood vessel
30	chr4:703600-727200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:703800-715400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:703800-724400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr4:704000-724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:704200-714600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr4:704200-715800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:704400-709000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:704400-714400	Weak transcription	HSMM	muscle
38	chr4:704400-714600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:704400-714600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:704400-714600	Weak transcription	Right Atrium	heart
41	chr4:704400-715600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:704400-721200	Weak transcription	Small Intestine	intestine
43	chr4:704400-721400	Weak transcription	A549	lung
44	chr4:704600-714200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:704600-727600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:704800-714400	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:704800-714600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:704800-714600	Weak transcription	Brain Angular Gyrus	brain
49	chr4:704800-714800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:704800-724600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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