Variant report

Variant	rs57196315
Chromosome Location	chr7:6280753-6280754
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12533398	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17136085	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs57240861	1.00[AFR][1000 genomes]
rs59284534	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7810779	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers 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	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6268800-6282400	Weak transcription	HMEC	breast
2	chr7:6268800-6285000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:6269200-6288000	Weak transcription	NHEK	skin
4	chr7:6271200-6282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:6272400-6280800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:6272600-6285800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:6272800-6282200	Weak transcription	Osteobl	bone
8	chr7:6273000-6285000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:6273000-6286600	Weak transcription	HSMMtube	muscle
10	chr7:6273600-6282400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:6273600-6282400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:6274000-6280800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:6274200-6280800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:6274200-6281000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:6274400-6285400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:6274400-6289400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:6274400-6296000	Weak transcription	Primary B cells from cord blood	blood
18	chr7:6274800-6282200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:6275000-6282400	Weak transcription	Right Ventricle	heart
20	chr7:6275000-6285000	Weak transcription	Right Atrium	heart
21	chr7:6275000-6287400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:6275000-6288000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:6275000-6296000	Weak transcription	Fetal Intestine Small	intestine
24	chr7:6275200-6285800	Weak transcription	HSMM	muscle
25	chr7:6275400-6282200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:6275400-6282200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:6275400-6286000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:6275800-6285400	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:6275800-6285800	Weak transcription	Fetal Stomach	stomach
30	chr7:6276800-6283200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:6277000-6285800	Weak transcription	Ovary	ovary
32	chr7:6277000-6286600	Weak transcription	Psoas Muscle	Psoas
33	chr7:6277600-6282400	Weak transcription	Placenta	Placenta
34	chr7:6277600-6282400	Weak transcription	Left Ventricle	heart
35	chr7:6277600-6285000	Weak transcription	Aorta	Aorta
36	chr7:6278400-6286200	Weak transcription	A549	lung
37	chr7:6279400-6282600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:6279600-6280800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr7:6280200-6282400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:6280400-6280800	Enhancers	GM12878-XiMat	blood
41	chr7:6280400-6282200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:6280400-6282600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:6280600-6280800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:6280600-6281200	Enhancers	K562	blood
45	chr7:6280600-6281200	Enhancers	NHLF	lung

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