Variant report

Variant	rs28546422
Chromosome Location	chr7:6359270-6359271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10216162	1.00[AMR][1000 genomes]
rs10231220	1.00[AMR][1000 genomes]
rs10234437	1.00[AMR][1000 genomes]
rs10238614	1.00[AMR][1000 genomes]
rs10244599	1.00[AMR][1000 genomes]
rs10247424	1.00[AMR][1000 genomes]
rs10248223	1.00[AMR][1000 genomes]
rs10255608	1.00[AMR][1000 genomes]
rs17151489	1.00[AMR][1000 genomes]
rs28429454	1.00[AMR][1000 genomes]
rs28537080	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1020251	chr7:6309528-6379941	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv971129	chr7:6335095-6361668	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv1025381	chr7:6356704-6409818	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6357800-6368800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:6357800-6369200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:6357800-6369200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:6357800-6369400	Weak transcription	Brain Anterior Caudate	brain
5	chr7:6357800-6369400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:6357800-6369600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:6357800-6369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:6357800-6369600	Weak transcription	Fetal Thymus	thymus
9	chr7:6357800-6369800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:6357800-6369800	Weak transcription	HSMMtube	muscle
11	chr7:6357800-6370200	Weak transcription	Fetal Intestine Small	intestine
12	chr7:6357800-6386200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:6358000-6360400	Weak transcription	A549	lung
14	chr7:6358000-6362400	Weak transcription	Fetal Lung	lung
15	chr7:6358000-6362800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:6358000-6362800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:6358000-6362800	Weak transcription	Fetal Kidney	kidney
18	chr7:6358000-6366600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:6358000-6367400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr7:6358000-6369400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:6358000-6369400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:6358000-6369600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:6358000-6369600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:6358000-6370200	Weak transcription	Spleen	Spleen
25	chr7:6358000-6371600	Weak transcription	HMEC	breast
26	chr7:6358000-6372200	Weak transcription	NHDF-Ad	bronchial
27	chr7:6358000-6378400	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:6358000-6386000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:6358200-6362600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:6358200-6362600	Weak transcription	Colon Smooth Muscle	Colon
31	chr7:6358200-6362600	Weak transcription	NHLF	lung
32	chr7:6358200-6362800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:6358200-6366800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:6358200-6369200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:6358200-6369400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:6358200-6369400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:6358200-6369400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:6358200-6369600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:6358200-6369600	Weak transcription	Osteobl	bone
40	chr7:6358200-6369800	Weak transcription	Primary B cells from cord blood	blood
41	chr7:6358200-6370000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:6358200-6370000	Weak transcription	Lung	lung
43	chr7:6358200-6370200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr7:6358200-6372200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:6358200-6372400	Weak transcription	Right Atrium	heart
46	chr7:6358200-6387200	Weak transcription	HepG2	liver
47	chr7:6358200-6387600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:6358200-6387600	Weak transcription	HSMM	muscle
49	chr7:6358200-6387600	Weak transcription	NH-A	brain
50	chr7:6358400-6362400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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