Variant report

Variant	rs4979171
Chromosome Location	chr9:115627262-115627263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:115623112..115625247-chr9:115625662..115630540,4	K562	blood:
2	chr9:115622331..115624612-chr9:115626867..115628416,2	K562	blood:
3	chr9:115615876..115617436-chr9:115625877..115628749,2	MCF-7	breast:
4	chr9:115625288..115627848-chr9:115629822..115631773,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10733599	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2025544	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4978510	0.91[EUR][1000 genomes]
rs7869100	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv893733	chr9:115397206-115712068	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv2422302	chr9:115550339-115656433	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2757351	chr9:115600623-115632898	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1047000	chr9:115610445-115884038	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115577600-115630400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr9:115582400-115630000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr9:115594200-115634400	Weak transcription	NH-A	brain
4	chr9:115601200-115641200	Weak transcription	Fetal Brain Male	brain
5	chr9:115607400-115643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:115607600-115630200	Weak transcription	NHEK	skin
7	chr9:115611400-115628600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:115611400-115634600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:115611600-115630200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:115611600-115634200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr9:115611800-115630200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:115612000-115634600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:115613600-115628200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr9:115613600-115642600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr9:115614000-115632600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr9:115614200-115630200	Weak transcription	Fetal Brain Female	brain
17	chr9:115615200-115630200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:115615600-115630000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr9:115615600-115630200	Weak transcription	HMEC	breast
20	chr9:115615600-115631000	Weak transcription	Psoas Muscle	Psoas
21	chr9:115615600-115639200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:115615600-115646400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:115615800-115628600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:115616000-115630000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:115616000-115631400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr9:115617000-115628600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:115617000-115628800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr9:115617000-115630200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:115617200-115627400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr9:115617600-115629800	Weak transcription	HSMMtube	muscle
31	chr9:115618000-115630200	Weak transcription	HSMM	muscle
32	chr9:115620600-115631000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:115621200-115639400	Weak transcription	Stomach Mucosa	stomach
34	chr9:115621600-115629800	Strong transcription	Fetal Intestine Small	intestine
35	chr9:115622400-115627400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr9:115622800-115627600	Enhancers	Primary B cells from peripheral blood	blood
37	chr9:115623000-115627600	Enhancers	Primary hematopoietic stem cells	blood
38	chr9:115623200-115627800	Enhancers	Fetal Thymus	thymus
39	chr9:115623600-115630200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:115624200-115629200	Enhancers	Adipose Nuclei	Adipose
41	chr9:115624200-115652600	Weak transcription	Fetal Heart	heart
42	chr9:115624400-115630200	Weak transcription	Right Ventricle	heart
43	chr9:115624600-115628200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:115624600-115628600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr9:115624800-115630200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr9:115624800-115631200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:115624800-115635200	Strong transcription	Primary T cells from cord blood	blood
48	chr9:115625000-115627600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr9:115625200-115629000	Strong transcription	Fetal Intestine Large	intestine
50	chr9:115625400-115627400	Weak transcription	K562	blood

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