Variant report

Variant	rs60301933
Chromosome Location	chr7:99108148-99108149
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99100700..99103626-chr7:99107423..99111491,3	K562	blood:
2	chr7:99076808..99079461-chr7:99108019..99110192,2	K562	blood:
3	chr7:99102482..99104121-chr7:99107381..99108899,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196652	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10238965	0.82[ASN][1000 genomes]
rs10240199	0.85[ASN][1000 genomes]
rs10265385	0.90[ASN][1000 genomes]
rs10271582	0.83[ASN][1000 genomes]
rs10464604	0.87[ASN][1000 genomes]
rs11539770	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11976018	0.84[ASN][1000 genomes]
rs12538826	0.86[ASN][1000 genomes]
rs17161766	0.86[AFR][1000 genomes]
rs17161768	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17161769	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17161771	0.81[ASN][1000 genomes]
rs17161772	0.81[ASN][1000 genomes]
rs17161774	0.82[AMR][1000 genomes]
rs17161780	0.86[AMR][1000 genomes]
rs17161783	0.82[AMR][1000 genomes]
rs1985453	0.82[AMR][1000 genomes]
rs2240385	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2272168	0.83[ASN][1000 genomes]
rs3137	0.84[ASN][1000 genomes]
rs3800960	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3823812	0.82[AMR][1000 genomes]
rs3843540	0.84[ASN][1000 genomes]
rs3901286	0.86[ASN][1000 genomes]
rs45492098	0.86[ASN][1000 genomes]
rs45540134	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs45622743	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4646446	0.82[AMR][1000 genomes]
rs4646447	0.82[AMR][1000 genomes]
rs4646449	0.82[AMR][1000 genomes]
rs4646453	0.82[AMR][1000 genomes]
rs4646456	0.82[AMR][1000 genomes]
rs58024720	0.82[AMR][1000 genomes]
rs58222677	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59986060	0.82[AMR][1000 genomes]
rs60865030	0.82[AMR][1000 genomes]
rs61159815	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61337492	0.82[AMR][1000 genomes]
rs61402640	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61543997	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72494451	0.89[ASN][1000 genomes]
rs72494452	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7804551	0.85[ASN][1000 genomes]
rs940336	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99103800-99125600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:99104000-99108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:99104000-99113000	Weak transcription	Aorta	Aorta
4	chr7:99104200-99108600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:99104200-99108600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:99104200-99109600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:99104200-99110000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:99104200-99110000	Weak transcription	Esophagus	oesophagus
9	chr7:99104200-99110000	Weak transcription	HSMMtube	muscle
10	chr7:99104200-99112600	Weak transcription	Small Intestine	intestine
11	chr7:99104200-99113600	Weak transcription	Pancreas	Pancrea
12	chr7:99104200-99114000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:99104200-99118600	Weak transcription	Right Atrium	heart
14	chr7:99104200-99123000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:99104600-99109400	Weak transcription	Primary B cells from cord blood	blood
16	chr7:99104800-99109000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:99105000-99108400	Weak transcription	Primary T cells from cord blood	blood
18	chr7:99105000-99108400	Weak transcription	Brain Anterior Caudate	brain
19	chr7:99105000-99108400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:99105000-99108400	Weak transcription	Thymus	Thymus
21	chr7:99105000-99108600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:99105000-99108600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:99105000-99108600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:99105000-99108600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:99105000-99108600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:99105000-99108600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:99105000-99108600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:99105000-99108600	Weak transcription	Brain Substantia Nigra	brain
29	chr7:99105000-99108600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:99105000-99108600	Weak transcription	A549	lung
31	chr7:99105000-99108600	Weak transcription	HepG2	liver
32	chr7:99105000-99108600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr7:99105000-99109400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:99105000-99109600	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:99105000-99109600	Weak transcription	Fetal Lung	lung
36	chr7:99105000-99109600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:99105000-99109800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:99105000-99109800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:99105000-99109800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:99105000-99109800	Weak transcription	HMEC	breast
41	chr7:99105000-99109800	Weak transcription	HSMM	muscle
42	chr7:99105000-99109800	Weak transcription	HUVEC	blood vessel
43	chr7:99105000-99109800	Weak transcription	NHEK	skin
44	chr7:99105000-99110000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:99105000-99110000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:99105000-99110000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr7:99105000-99110800	Weak transcription	Hela-S3	cervix
48	chr7:99105000-99111600	Weak transcription	NHDF-Ad	bronchial
49	chr7:99105000-99113600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:99105000-99113600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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