Variant report

Variant	rs7575979
Chromosome Location	chr2:112912253-112912254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:112911308..112914054-chr2:113031885..113034558,2	K562	blood:
2	chr2:112911116..112914054-chr2:113031578..113034558,3	K562	blood:

Variant related genes	Relation type
ENSG00000188177	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10196498	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10207420	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1316488	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1320360	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2312697	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4411701	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849045	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4849046	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542041	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6755850	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7571942	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7593053	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7607362	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers 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 miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer 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	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv874866	chr2:112906599-112991098	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112896400-112934600	Weak transcription	Aorta	Aorta
2	chr2:112898200-112915000	Weak transcription	Pancreas	Pancrea
3	chr2:112899000-112913000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:112899200-112914000	Weak transcription	HepG2	liver
5	chr2:112900200-112913600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:112900600-112931400	Weak transcription	Fetal Lung	lung
7	chr2:112900800-112912800	Weak transcription	Spleen	Spleen
8	chr2:112906800-112912800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:112907200-112920400	Weak transcription	Right Atrium	heart
10	chr2:112907400-112914200	Enhancers	HSMM	muscle
11	chr2:112907600-112914400	Enhancers	HSMMtube	muscle
12	chr2:112908000-112913000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:112908400-112914000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:112908800-112913000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:112908800-112913000	Weak transcription	HUVEC	blood vessel
16	chr2:112908800-112913200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:112908800-112913800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:112908800-112914000	Weak transcription	HMEC	breast
19	chr2:112909200-112913200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:112909200-112914000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:112911000-112913200	Weak transcription	GM12878-XiMat	blood
22	chr2:112911000-112913400	Strong transcription	Fetal Stomach	stomach
23	chr2:112911200-112913000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:112911200-112913000	Weak transcription	Adipose Nuclei	Adipose
25	chr2:112911200-112913400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:112911200-112914000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:112911400-112912800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:112911400-112913000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:112911400-112913000	Enhancers	Thymus	Thymus
30	chr2:112911400-112913000	Weak transcription	NHLF	lung
31	chr2:112911400-112913400	Weak transcription	Osteobl	bone
32	chr2:112911400-112913800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:112911600-112912800	Weak transcription	Lung	lung
34	chr2:112911600-112913600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:112911600-112914000	Weak transcription	NHDF-Ad	bronchial
36	chr2:112911800-112912800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr2:112911800-112914800	Enhancers	Fetal Thymus	thymus
38	chr2:112912000-112912600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:112912000-112912800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr2:112912000-112913000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr2:112912000-112913000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:112912000-112913000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr2:112912000-112913000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr2:112912000-112913600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:112912000-112915200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:112912200-112912600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr2:112912200-112912600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:112912200-112912600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:112912200-112912800	Enhancers	H9 Cell Line	embryonic stem cell
50	chr2:112912200-112912800	Enhancers	HUES64 Cell Line	embryonic stem cell

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