Variant report

Variant	rs72874752
Chromosome Location	chr4:95378225-95378226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:95377004..95378631-chr4:95378728..95380869,2	MCF-7	breast:
2	chr4:95377886..95380417-chr4:95453413..95456083,2	K562	blood:
3	chr4:95261314..95263127-chr4:95377232..95378927,2	K562	blood:
4	chr4:95377272..95378778-chr4:95510373..95513182,2	K562	blood:
5	chr4:95376694..95379981-chr4:95408433..95412249,3	K562	blood:
6	chr4:95372054..95375866-chr4:95376440..95379148,4	MCF-7	breast:
7	chr4:95377214..95379543-chr4:95483011..95484694,2	K562	blood:
8	chr4:95371672..95374851-chr4:95376259..95380143,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction
ENSG00000203436	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11097429	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11097430	0.83[AMR][1000 genomes]
rs11932136	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11932224	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11933735	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935012	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935039	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935084	0.91[AMR][1000 genomes]
rs11935947	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938329	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938449	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11939756	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940613	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941259	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941353	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942920	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11946663	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56827347	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58528979	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6845473	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874705	1.00[EUR][1000 genomes]
rs72874730	1.00[EUR][1000 genomes]
rs72874733	1.00[EUR][1000 genomes]
rs72874739	1.00[EUR][1000 genomes]
rs72874745	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874760	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874763	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874764	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874769	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874781	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874785	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874786	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874791	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874800	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874802	1.00[EUR][1000 genomes]
rs72876204	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876207	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876211	1.00[EUR][1000 genomes]
rs72876216	1.00[EUR][1000 genomes]
rs72876217	1.00[EUR][1000 genomes]
rs72876219	1.00[EUR][1000 genomes]
rs72876229	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876241	1.00[EUR][1000 genomes]
rs72890408	1.00[EUR][1000 genomes]
rs72890416	1.00[EUR][1000 genomes]
rs7673478	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95374200-95378800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:95374200-95387000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:95374200-95388600	Weak transcription	Gastric	stomach
4	chr4:95374200-95389200	Weak transcription	Lung	lung
5	chr4:95374200-95395400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:95374200-95400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:95374400-95382400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:95374600-95378800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr4:95374600-95378800	Weak transcription	Pancreas	Pancrea
10	chr4:95374600-95379000	Weak transcription	Thymus	Thymus
11	chr4:95374600-95380200	Weak transcription	Primary B cells from cord blood	blood
12	chr4:95374600-95381000	Weak transcription	Spleen	Spleen
13	chr4:95374600-95382200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:95374600-95388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:95374800-95378800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:95374800-95378800	Weak transcription	Small Intestine	intestine
17	chr4:95374800-95380600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:95374800-95381600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:95374800-95385200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:95374800-95398200	Weak transcription	Esophagus	oesophagus
21	chr4:95375000-95378600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:95375000-95378600	Weak transcription	Fetal Kidney	kidney
23	chr4:95375000-95379400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:95375000-95379600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:95375000-95380600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:95375000-95380600	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr4:95375000-95387600	Weak transcription	Fetal Stomach	stomach
28	chr4:95375000-95440200	Weak transcription	Primary T cells from cord blood	blood
29	chr4:95375200-95379000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:95375800-95378800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:95375800-95378800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:95375800-95378800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:95375800-95378800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:95375800-95401600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:95376000-95378400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:95376000-95378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:95376000-95379000	Weak transcription	Dnd41	blood
38	chr4:95376000-95380800	Weak transcription	Colonic Mucosa	Colon
39	chr4:95376000-95385000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr4:95376200-95378400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:95376200-95378800	Weak transcription	Brain Anterior Caudate	brain
42	chr4:95376200-95379000	Weak transcription	Stomach Mucosa	stomach
43	chr4:95376200-95379600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:95376400-95378800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:95376400-95378800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr4:95376400-95379000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:95376400-95379200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
48	chr4:95376600-95378400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:95376600-95378400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:95376600-95378400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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