Variant report

Variant	rs4718535
Chromosome Location	chr7:66807957-66807958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66806712..66809740-chr7:66809964..66812550,3	K562	blood:
2	chr7:66805244..66806812-chr7:66806851..66808891,2	MCF-7	breast:
3	chr7:66805031..66806726-chr7:66806842..66808833,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STAG3L4-1	chr7:66807824-66808421	NONHSAT121283

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10224468	0.92[ASN][1000 genomes]
rs10273547	0.97[ASN][1000 genomes]
rs10950071	0.95[ASN][1000 genomes]
rs11765153	0.97[ASN][1000 genomes]
rs11765818	0.95[ASN][1000 genomes]
rs11976633	0.88[ASN][1000 genomes]
rs12698586	0.94[ASN][1000 genomes]
rs1318091	0.94[ASN][1000 genomes]
rs1989425	0.97[ASN][1000 genomes]
rs2421292	0.83[EUR][1000 genomes]
rs2604420	0.86[ASN][1000 genomes]
rs34000470	0.95[ASN][1000 genomes]
rs36108509	0.98[ASN][1000 genomes]
rs4717366	0.86[AFR][1000 genomes]
rs4717369	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4718532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718533	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718539	0.97[ASN][1000 genomes]
rs62467569	0.96[ASN][1000 genomes]
rs62467571	0.97[ASN][1000 genomes]
rs6460340	0.97[ASN][1000 genomes]
rs6958460	0.94[ASN][1000 genomes]
rs6963760	0.94[ASN][1000 genomes]
rs6967594	0.94[ASN][1000 genomes]
rs6979307	0.96[ASN][1000 genomes]
rs759012	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806514	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs887710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs985435	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1027702	chr7:66722103-66841913	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv1031048	chr7:66722103-66844039	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv966839	chr7:66805198-66815088	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1031560	chr7:66805244-66846663	Enhancers Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1022779	chr7:66805244-66849392	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66778800-66809000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:66780400-66808200	Weak transcription	GM12878-XiMat	blood
3	chr7:66780400-66809400	Weak transcription	A549	lung
4	chr7:66781400-66810200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:66782800-66809400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:66785800-66808200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:66785800-66816200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr7:66786000-66809400	Weak transcription	Dnd41	blood
9	chr7:66786200-66809400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:66786800-66809400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:66799400-66808200	Weak transcription	Fetal Lung	lung
12	chr7:66800000-66808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:66800400-66808000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:66801000-66808600	Weak transcription	Aorta	Aorta
15	chr7:66801000-66809200	Weak transcription	Esophagus	oesophagus
16	chr7:66801200-66812000	Weak transcription	Gastric	stomach
17	chr7:66802000-66809000	Weak transcription	NHEK	skin
18	chr7:66802400-66808200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr7:66802400-66808600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:66802600-66809600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:66802600-66811800	Weak transcription	Stomach Mucosa	stomach
22	chr7:66802800-66814800	Weak transcription	HSMMtube	muscle
23	chr7:66803200-66811600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:66803400-66809000	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:66804400-66809800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:66804400-66810000	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr7:66804400-66810200	Strong transcription	Fetal Intestine Large	intestine
28	chr7:66804600-66809800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
29	chr7:66804600-66810400	Strong transcription	Primary T cells from cord blood	blood
30	chr7:66804600-66811200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr7:66804800-66809400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr7:66804800-66809600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:66805200-66808400	Weak transcription	Lung	lung
34	chr7:66805200-66808600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:66805200-66808600	Weak transcription	Fetal Brain Female	brain
36	chr7:66805200-66808600	Weak transcription	Spleen	Spleen
37	chr7:66805200-66808800	Weak transcription	Psoas Muscle	Psoas
38	chr7:66805200-66809200	Weak transcription	Liver	Liver
39	chr7:66805200-66809600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:66805200-66816200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:66805400-66808200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:66805400-66808400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr7:66805400-66809000	Weak transcription	Fetal Heart	heart
44	chr7:66805400-66809200	Weak transcription	Ovary	ovary
45	chr7:66805800-66808600	Weak transcription	Left Ventricle	heart
46	chr7:66806200-66813400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:66806400-66809600	Weak transcription	Brain Substantia Nigra	brain
48	chr7:66806600-66808400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:66806600-66809600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:66806600-66810000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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