Variant report

Variant	rs60849630
Chromosome Location	chr7:103823304-103823305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103814607..103816187-chr7:103821734..103824304,2	K562	blood:
2	chr7:103815431..103817815-chr7:103822435..103824014,2	K562	blood:
3	chr7:103820510..103823425-chr7:103831806..103833927,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10487186	0.94[AFR][1000 genomes]
rs10487187	0.94[AFR][1000 genomes]
rs17133243	0.91[AFR][1000 genomes]
rs17159460	0.91[AFR][1000 genomes]
rs17159497	0.91[AFR][1000 genomes]
rs17159520	0.91[AFR][1000 genomes]
rs17159629	0.94[AFR][1000 genomes]
rs17159657	0.94[AFR][1000 genomes]
rs17159689	0.94[AFR][1000 genomes]
rs17159701	0.94[AFR][1000 genomes]
rs17159713	0.94[AFR][1000 genomes]
rs17159723	0.89[AFR][1000 genomes]
rs17159768	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17159771	0.88[AFR][1000 genomes]
rs1861448	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28616246	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3079580	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56821345	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58837307	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60431768	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6946744	0.94[AFR][1000 genomes]
rs6950326	0.94[AFR][1000 genomes]
rs6951205	0.94[AFR][1000 genomes]
rs7458812	0.94[AFR][1000 genomes]
rs7781808	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7805361	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7805635	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7807929	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs872861	0.92[AFR][1000 genomes];0.85[AMR][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	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103764000-103829800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:103765600-103840200	Weak transcription	Small Intestine	intestine
3	chr7:103766200-103823600	Weak transcription	Esophagus	oesophagus
4	chr7:103766200-103838400	Weak transcription	Spleen	Spleen
5	chr7:103767200-103829200	Weak transcription	Gastric	stomach
6	chr7:103767200-103843600	Weak transcription	Right Ventricle	heart
7	chr7:103775200-103829200	Weak transcription	Lung	lung
8	chr7:103796400-103843600	Weak transcription	Fetal Brain Male	brain
9	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
10	chr7:103798400-103829600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:103800800-103829600	Weak transcription	NHLF	lung
12	chr7:103802200-103838600	Weak transcription	Psoas Muscle	Psoas
13	chr7:103804200-103824800	Weak transcription	Pancreas	Pancrea
14	chr7:103809400-103838200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:103815400-103839200	Weak transcription	Colonic Mucosa	Colon
16	chr7:103815600-103829200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:103815600-103829200	Weak transcription	Aorta	Aorta
18	chr7:103815600-103838400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:103815800-103823400	Weak transcription	Fetal Intestine Small	intestine
20	chr7:103816000-103846200	Weak transcription	Stomach Mucosa	stomach
21	chr7:103816800-103836600	Weak transcription	Brain Substantia Nigra	brain
22	chr7:103817400-103827800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:103817600-103823600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr7:103817800-103824800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:103817800-103825200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr7:103818000-103823800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:103818000-103824200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
28	chr7:103818000-103824400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr7:103818200-103829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:103818400-103824000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr7:103818600-103832400	Strong transcription	Liver	Liver
32	chr7:103818600-103839600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:103818800-103832800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:103819000-103832400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:103819000-103838400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:103819200-103824000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr7:103819200-103830800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr7:103819400-103825400	Strong transcription	Hela-S3	cervix
39	chr7:103819600-103824400	Strong transcription	HSMM	muscle
40	chr7:103819600-103825600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:103819600-103830400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr7:103819800-103824400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr7:103820200-103825600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:103820400-103824800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:103820400-103832400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr7:103820600-103823600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:103820600-103827600	Weak transcription	HMEC	breast
48	chr7:103820600-103829800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr7:103820800-103823800	Strong transcription	Fetal Lung	lung
50	chr7:103820800-103829200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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