Variant report

Variant	rs4365751
Chromosome Location	chr4:78074476-78074477
allele	A/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	POLR2A	chr4:78074226-78075659	Raji	blood:	n/a	n/a
2	ZNF384	chr4:78074136-78074495	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:78020522..78022856-chr4:78073841..78076321,2	MCF-7	breast:
2	chr4:77993925..77999822-chr4:78072652..78081114,32	MCF-7	breast:
3	chr4:78066334..78068831-chr4:78072502..78074956,2	K562	blood:

Variant related genes	Relation type
RNU6-1187P	TF binding region
CCNG2	TF binding region
ENSG00000118816	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10025838	0.91[EUR][1000 genomes]
rs11097704	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11731592	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12504752	0.92[ASN][1000 genomes]
rs12509168	0.91[EUR][1000 genomes]
rs12640093	0.91[EUR][1000 genomes]
rs28464714	0.87[ASN][1000 genomes]
rs4241604	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4280759	0.91[EUR][1000 genomes]
rs4382065	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4518274	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4547817	0.91[EUR][1000 genomes]
rs4558892	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4563522	0.91[EUR][1000 genomes]
rs4859473	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859756	0.84[EUR][1000 genomes]
rs6532867	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6532868	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6532870	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6532871	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6846698	0.91[EUR][1000 genomes]
rs7654920	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78067800-78077600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:78068000-78076000	Weak transcription	HMEC	breast
3	chr4:78068200-78075200	Weak transcription	NHEK	skin
4	chr4:78068600-78075800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:78068600-78076600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:78068800-78074600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:78069200-78077400	Weak transcription	HSMMtube	muscle
8	chr4:78069400-78076400	Weak transcription	Hela-S3	cervix
9	chr4:78071200-78077600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:78072000-78077400	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:78072400-78077400	Enhancers	Fetal Thymus	thymus
12	chr4:78072600-78074800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:78073200-78075800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr4:78073200-78076800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:78073200-78076800	Enhancers	Fetal Lung	lung
16	chr4:78073200-78077400	Enhancers	Primary T cells from cord blood	blood
17	chr4:78073200-78077400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr4:78073400-78075200	Enhancers	GM12878-XiMat	blood
19	chr4:78073400-78075600	Enhancers	Thymus	Thymus
20	chr4:78073400-78076800	Enhancers	Fetal Intestine Small	intestine
21	chr4:78073400-78077200	Enhancers	Fetal Intestine Large	intestine
22	chr4:78073600-78074800	Enhancers	Fetal Muscle Leg	muscle
23	chr4:78073600-78074800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr4:78073600-78077000	Enhancers	Duodenum Mucosa	Duodenum
25	chr4:78073600-78077400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:78073600-78077600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr4:78073800-78074800	Enhancers	Small Intestine	intestine
28	chr4:78073800-78076800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr4:78074000-78074600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:78074000-78075200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:78074000-78075200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:78074000-78076200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:78074000-78076400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:78074000-78076400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:78074000-78076600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:78074000-78077000	Enhancers	Primary hematopoietic stem cells	blood
37	chr4:78074000-78077200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:78074000-78077400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr4:78074200-78075200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:78074200-78075600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:78074200-78076000	Enhancers	Primary B cells from cord blood	blood
42	chr4:78074200-78076000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:78074200-78076200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:78074200-78076400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:78074200-78076400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:78074200-78076600	Weak transcription	Stomach Mucosa	stomach
47	chr4:78074200-78077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:78074400-78074600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr4:78074400-78074800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:78074400-78075000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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