Variant report

Variant	rs901378
Chromosome Location	chr5:177039241-177039242
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177038565..177041096-chr5:177043118..177044821,2	MCF-7	breast:
2	chr5:177032232..177035500-chr5:177036959..177040383,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000027847	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28398967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28449232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28523617	0.80[AFR][1000 genomes]
rs4607363	1.00[EUR][1000 genomes]
rs4976702	1.00[EUR][1000 genomes]
rs6882653	1.00[AFR][1000 genomes]
rs755873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177028000-177040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:177028400-177040200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:177028400-177042600	Weak transcription	Primary B cells from cord blood	blood
4	chr5:177028400-177044800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:177028400-177045800	Weak transcription	Left Ventricle	heart
6	chr5:177028400-177045800	Weak transcription	Psoas Muscle	Psoas
7	chr5:177028400-177048400	Weak transcription	NH-A	brain
8	chr5:177028600-177041200	Weak transcription	Fetal Lung	lung
9	chr5:177028600-177046400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:177028600-177049000	Weak transcription	HUVEC	blood vessel
11	chr5:177028600-177053200	Weak transcription	HSMM	muscle
12	chr5:177028800-177044600	Weak transcription	GM12878-XiMat	blood
13	chr5:177029000-177054200	Weak transcription	Brain Substantia Nigra	brain
14	chr5:177029200-177045600	Weak transcription	Brain Angular Gyrus	brain
15	chr5:177030400-177039400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:177032800-177045600	Weak transcription	HSMMtube	muscle
17	chr5:177033000-177045600	Weak transcription	Aorta	Aorta
18	chr5:177034200-177040400	Strong transcription	Thymus	Thymus
19	chr5:177034400-177045600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:177034400-177046200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:177034400-177048600	Weak transcription	A549	lung
22	chr5:177034600-177039600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:177034600-177044400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:177034800-177040400	Strong transcription	Fetal Brain Female	brain
25	chr5:177034800-177044600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr5:177034800-177044600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:177034800-177045000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr5:177034800-177052200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:177035000-177043400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:177035000-177044600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:177035000-177044600	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:177035000-177044600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:177035000-177044600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:177035000-177045400	Weak transcription	Pancreas	Pancrea
35	chr5:177035000-177045400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:177035000-177045600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:177035000-177046600	Weak transcription	Fetal Brain Male	brain
38	chr5:177035000-177051000	Weak transcription	Stomach Mucosa	stomach
39	chr5:177035000-177054200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:177035200-177040200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:177035200-177040400	Strong transcription	Brain Germinal Matrix	brain
42	chr5:177035200-177041600	Strong transcription	Fetal Stomach	stomach
43	chr5:177035200-177044400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr5:177035200-177044800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:177035200-177044800	Weak transcription	Fetal Kidney	kidney
46	chr5:177035200-177045600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:177035200-177053000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:177035400-177040200	Strong transcription	Lung	lung
49	chr5:177035400-177044600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:177035400-177044600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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