Variant report

Variant	rs4693796
Chromosome Location	chr4:87900288-87900289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87894083..87901163-chr4:87926378..87930735,13	K562	blood:
2	chr4:87895920..87900923-chr4:87925411..87930708,9	MCF-7	breast:
3	chr4:87894580..87900721-chr4:87926553..87929375,8	MCF-7	breast:
4	chr4:87854810..87857706-chr4:87898102..87901903,3	MCF-7	breast:
5	chr4:87897462..87900322-chr4:87922255..87924346,2	K562	blood:
6	chr4:87855124..87856769-chr4:87897748..87900554,2	MCF-7	breast:
7	chr4:87891928..87895544-chr4:87897508..87902479,6	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10015639	0.92[ASN][1000 genomes]
rs10032244	0.82[ASN][1000 genomes]
rs11729622	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13126334	0.83[ASN][1000 genomes]
rs13127250	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1447994	0.85[ASN][1000 genomes]
rs2053769	0.86[ASN][1000 genomes]
rs2053770	0.85[ASN][1000 genomes]
rs340633	0.83[ASN][1000 genomes]
rs340636	0.83[ASN][1000 genomes]
rs340637	0.83[ASN][1000 genomes]
rs340638	0.83[ASN][1000 genomes]
rs340639	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs340648	0.82[ASN][1000 genomes]
rs340650	0.81[ASN][1000 genomes]
rs4693798	0.83[ASN][1000 genomes]
rs4693800	0.83[ASN][1000 genomes]
rs58822039	0.87[ASN][1000 genomes]
rs60518843	0.84[ASN][1000 genomes]
rs6531941	0.91[ASN][1000 genomes]
rs6811587	0.83[ASN][1000 genomes]
rs9715807	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87872600-87926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:87882600-87920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:87882800-87912400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:87892000-87900400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:87892200-87907000	Weak transcription	Brain Anterior Caudate	brain
6	chr4:87892400-87920600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:87892800-87909400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:87894400-87911000	Weak transcription	Pancreas	Pancrea
9	chr4:87894600-87904200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:87894600-87915600	Weak transcription	Lung	lung
11	chr4:87894600-87921000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:87895200-87909400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:87895400-87920000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:87896200-87902800	Weak transcription	Primary T cells from cord blood	blood
15	chr4:87896200-87916000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:87896200-87919200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:87896400-87902800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:87896800-87918800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:87897200-87900600	Enhancers	Primary hematopoietic stem cells	blood
20	chr4:87897200-87901000	Enhancers	Fetal Intestine Large	intestine
21	chr4:87897200-87902600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr4:87897600-87915600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:87897800-87900400	Enhancers	Fetal Intestine Small	intestine
24	chr4:87897800-87903000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:87898000-87903000	Weak transcription	Thymus	Thymus
26	chr4:87898200-87915400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:87898600-87901600	Enhancers	Primary B cells from peripheral blood	blood
28	chr4:87898600-87902800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr4:87898800-87902800	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:87899000-87900800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:87899000-87901200	Enhancers	HepG2	liver
32	chr4:87899000-87902800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:87899000-87902800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:87899000-87915400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:87899000-87915400	Weak transcription	Left Ventricle	heart
36	chr4:87899000-87920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:87899000-87921200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:87899200-87900400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:87899200-87902000	Weak transcription	Gastric	stomach
40	chr4:87899200-87902200	Weak transcription	Fetal Thymus	thymus
41	chr4:87899200-87902200	Weak transcription	Spleen	Spleen
42	chr4:87899200-87902400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:87899200-87902400	Weak transcription	Dnd41	blood
44	chr4:87899200-87902600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:87899200-87902600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:87899200-87902800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:87899200-87902800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:87899200-87902800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:87899200-87903000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:87899200-87903000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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