Variant report

Variant	rs2299427
Chromosome Location	chr7:107133654-107133655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107132036..107135481-chr7:107143415..107147537,5	K562	blood:
2	chr7:107125496..107128827-chr7:107131935..107133783,3	K562	blood:
3	chr7:107133036..107135324-chr7:107145398..107148368,3	MCF-7	breast:
4	chr7:107116237..107119401-chr7:107133412..107136186,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2237675	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2299424	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2299430	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419474	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73419490	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1832266	chr7:106961882-107136320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv1028571	chr7:107114479-107299723	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv539053	chr7:107114479-107299723	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv482365	chr7:107122401-107271861	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107090800-107146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:107091000-107145800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:107112800-107145800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:107115600-107135200	Weak transcription	Left Ventricle	heart
5	chr7:107120000-107145600	Weak transcription	Right Ventricle	heart
6	chr7:107120200-107135200	Weak transcription	Fetal Intestine Small	intestine
7	chr7:107122000-107147000	Weak transcription	HSMM	muscle
8	chr7:107123200-107155800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:107123600-107166200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:107126600-107135600	Weak transcription	Pancreas	Pancrea
11	chr7:107126600-107145600	Weak transcription	Adipose Nuclei	Adipose
12	chr7:107126800-107184800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:107127400-107175400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:107130800-107145400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:107130800-107163400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:107131400-107135400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:107131400-107179800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr7:107131800-107146000	Weak transcription	Dnd41	blood
19	chr7:107131800-107175000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:107132000-107146200	Weak transcription	Colonic Mucosa	Colon
21	chr7:107132000-107146800	Weak transcription	Fetal Thymus	thymus
22	chr7:107132200-107146400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:107132200-107146800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:107132800-107135400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:107133000-107133800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr7:107133000-107135000	Enhancers	Fetal Heart	heart
27	chr7:107133000-107135200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:107133200-107135200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:107133200-107140200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:107133200-107145600	Weak transcription	Aorta	Aorta
31	chr7:107133400-107133800	Enhancers	Psoas Muscle	Psoas
32	chr7:107133600-107134600	Weak transcription	Stomach Mucosa	stomach
33	chr7:107133600-107135200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:107133600-107145400	Weak transcription	Primary T cells from cord blood	blood
35	chr7:107133600-107145600	Weak transcription	Primary B cells from cord blood	blood
36	chr7:107133600-107146800	Weak transcription	Right Atrium	heart

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