Variant report

Variant	rs7732888
Chromosome Location	chr5:179004674-179004675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179003044..179005228-chr5:179048934..179051877,3	K562	blood:
2	chr5:178976464..178979366-chr5:179003151..179005535,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176783	Chromatin interaction
ENSG00000169045	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10479544	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11958537	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12188476	0.81[ASN][1000 genomes]
rs12518041	0.81[ASN][1000 genomes]
rs12519803	0.81[ASN][1000 genomes]
rs17355294	0.81[ASN][1000 genomes]
rs4128628	0.81[ASN][1000 genomes]
rs4128629	0.81[ASN][1000 genomes]
rs4535419	0.81[ASN][1000 genomes]
rs4701133	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55696570	0.95[ASN][1000 genomes]
rs55741920	0.95[ASN][1000 genomes]
rs55821473	0.81[ASN][1000 genomes]
rs56198018	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56370020	0.86[ASN][1000 genomes]
rs58788190	0.81[ASN][1000 genomes]
rs60104959	0.81[ASN][1000 genomes]
rs61408162	0.81[ASN][1000 genomes]
rs6874476	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72824554	0.81[ASN][1000 genomes]
rs7706115	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7710813	0.93[ASN][1000 genomes]
rs7715391	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
5	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
6	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
8	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7732888	HNRPH1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:178987400-179013200	Strong transcription	Fetal Stomach	stomach
3	chr5:178987400-179019800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
5	chr5:178987800-179006600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:178987800-179006800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:178987800-179009600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:178987800-179012200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:178987800-179017000	Strong transcription	Osteobl	bone
10	chr5:178987800-179031000	Strong transcription	Fetal Muscle Leg	muscle
11	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:178988000-179006800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:178988000-179009600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:178988400-179006200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:178988400-179006600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:178988400-179010200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:178989000-179006200	Strong transcription	Stomach Smooth Muscle	stomach
18	chr5:178989000-179006600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:178989000-179010200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:178989200-179006200	Strong transcription	Fetal Thymus	thymus
21	chr5:178989200-179006600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:178989400-179006600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr5:178989600-179006200	Strong transcription	Thymus	Thymus
24	chr5:178989600-179006400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:178991200-179016600	Weak transcription	Stomach Mucosa	stomach
26	chr5:178994200-179006200	Strong transcription	Fetal Brain Female	brain
27	chr5:178996200-179006600	Strong transcription	Adipose Nuclei	Adipose
28	chr5:178996200-179022600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:178996600-179013200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:178996800-179034000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:178997600-179012800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:178997600-179020200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:178998400-179007600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:178998400-179012800	Weak transcription	HSMM	muscle
35	chr5:178999400-179012800	Weak transcription	HMEC	breast
36	chr5:178999600-179004800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:178999800-179004800	Weak transcription	Hela-S3	cervix
38	chr5:178999800-179005000	Weak transcription	NHEK	skin
39	chr5:178999800-179005600	Weak transcription	NHLF	lung
40	chr5:178999800-179007600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr5:178999800-179007600	Weak transcription	Right Ventricle	heart
42	chr5:178999800-179013000	Weak transcription	Brain Substantia Nigra	brain
43	chr5:178999800-179013800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:178999800-179034800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:179000000-179006000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:179000000-179008200	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:179000000-179013000	Weak transcription	Psoas Muscle	Psoas
48	chr5:179000000-179034200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:179000400-179022800	Weak transcription	Fetal Heart	heart
50	chr5:179000800-179006200	Strong transcription	Duodenum Mucosa	Duodenum

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