Variant report

Variant	rs4918606
Chromosome Location	chr10:112609973-112609974
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:112601392..112612171-chr10:112628692..112635814,14	MCF-7	breast:
2	chr10:112606555..112610300-chr10:112611947..112614972,3	MCF-7	breast:
3	chr10:112608440..112622028-chr10:112627331..112635995,26	MCF-7	breast:
4	chr10:112604597..112607623-chr10:112608052..112611214,4	K562	blood:
5	chr10:112603039..112604756-chr10:112609878..112611950,2	MCF-7	breast:
6	chr10:112604056..112607553-chr10:112607737..112614942,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232470	Chromatin interaction
ENSG00000203497	Chromatin interaction
ENSG00000150593	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1410057	0.80[GIH][hapmap]
rs1885794	0.82[CHB][hapmap]
rs7095404	0.80[GIH][hapmap]
rs9943402	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv467455	chr10:112579299-112612471	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv552172	chr10:112579299-112612471	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv896003	chr10:112579299-112631211	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv896002	chr10:112579299-112638028	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv527892	chr10:112607918-112610839	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4918606	HABP2	cis	parietal	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112591400-112610600	Weak transcription	HSMMtube	muscle
2	chr10:112597000-112617200	Weak transcription	Psoas Muscle	Psoas
3	chr10:112597400-112614600	Weak transcription	Aorta	Aorta
4	chr10:112597800-112613400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:112597800-112617200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr10:112599600-112613000	Enhancers	Pancreas	Pancrea
7	chr10:112600600-112610000	Weak transcription	HMEC	breast
8	chr10:112600600-112617200	Weak transcription	Right Ventricle	heart
9	chr10:112600800-112613000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:112602400-112620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:112603800-112610200	Weak transcription	Thymus	Thymus
12	chr10:112605600-112617000	Weak transcription	Fetal Heart	heart
13	chr10:112607000-112612000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr10:112607200-112610600	Weak transcription	Colonic Mucosa	Colon
15	chr10:112607200-112610800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:112607200-112610800	Weak transcription	Fetal Lung	lung
17	chr10:112607200-112611000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:112607200-112611600	Weak transcription	Liver	Liver
19	chr10:112607200-112611800	Weak transcription	HepG2	liver
20	chr10:112607200-112612000	Weak transcription	Gastric	stomach
21	chr10:112607400-112610800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr10:112607400-112610800	Weak transcription	Stomach Mucosa	stomach
23	chr10:112607400-112611000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:112607400-112612000	Weak transcription	Left Ventricle	heart
25	chr10:112607600-112610200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr10:112607600-112610200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:112607600-112610800	Weak transcription	Fetal Muscle Leg	muscle
28	chr10:112607600-112610800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:112607600-112611800	Weak transcription	Small Intestine	intestine
30	chr10:112607600-112612000	Weak transcription	Right Atrium	heart
31	chr10:112607600-112617000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr10:112608000-112610600	Weak transcription	Adipose Nuclei	Adipose
33	chr10:112608200-112610600	Weak transcription	Fetal Intestine Small	intestine
34	chr10:112608200-112611800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr10:112608200-112616000	Enhancers	Primary T cells fromperipheralblood	blood
36	chr10:112608400-112611000	Weak transcription	Fetal Intestine Large	intestine
37	chr10:112608600-112612200	Enhancers	GM12878-XiMat	blood
38	chr10:112608800-112610400	Enhancers	Primary T cells from cord blood	blood
39	chr10:112608800-112616000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr10:112608800-112616000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr10:112609000-112615000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr10:112609000-112616000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr10:112609200-112612000	Enhancers	Esophagus	oesophagus
44	chr10:112609200-112612200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:112609200-112615400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr10:112609200-112616000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr10:112609200-112616000	Enhancers	Placenta	Placenta
48	chr10:112609400-112610600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr10:112609400-112610800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr10:112609400-112611200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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