Variant report

Variant	rs6460257
Chromosome Location	chr7:65196780-65196781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:65196532..65198137-chr7:65200212..65201729,2	K562	blood:
2	chr7:56101662..56102254-chr7:65196450..65196951,2	NB4	blood:
3	chr7:65189487..65191931-chr7:65193977..65196871,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUSB-5	chr7:65196535-65197024	NONHSAT121098
2	lnc-GUSB-5	chr7:65196535-65198801	NONHSAT121102

Variant related genes	Relation type
ENSG00000146733	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 5 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv517778	chr7:64462326-65326821	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv917231	chr7:64478253-65300317	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	esv2752166	chr7:64478386-65208605	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv1029796	chr7:64494934-65302696	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv533081	chr7:64499945-65208605	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	esv3339156	chr7:64510176-65349050	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
9	esv2758117	chr7:64551274-65208605	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv2759534	chr7:64551274-65373851	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription 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	44 gene(s)	inside rSNPs	diseases
11	nsv427788	chr7:64551274-65390424	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv1029343	chr7:64566957-65208605	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv538894	chr7:64566957-65208605	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv607316	chr7:64582849-65208605	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	esv2764020	chr7:64594065-65351820	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
16	nsv1018447	chr7:64609892-65308719	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
17	nsv538897	chr7:64609892-65308719	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv1029942	chr7:64679680-65371565	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
19	nsv538903	chr7:64679680-65371565	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
20	nsv1019667	chr7:64679680-65380603	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
21	esv2757227	chr7:64694241-65373851	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
22	esv2752170	chr7:64728078-65208605	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	esv2752171	chr7:64728078-65208605	Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
24	esv2752172	chr7:64728078-65208605	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	esv2752173	chr7:64830520-65208605	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	nsv888320	chr7:64956181-65208605	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
27	nsv428167	chr7:64980539-65208605	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
28	nsv1025207	chr7:65092426-65339879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
29	nsv1033400	chr7:65092426-65339879	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
30	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
31	nsv1020622	chr7:65161364-65339879	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
32	nsv970512	chr7:65196422-65200224	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6460257	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs6460257	VKORC1L1	cis	Whole Blood	GTEx
rs6460257	RP4-756H11.3	cis	Artery Tibial	GTEx
rs6460257	GUSB	cis	Whole Blood	GTEx
rs6460257	RP4-756H11.3	cis	lung	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65182600-65215200	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:65187600-65205400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr7:65187600-65215000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:65188600-65215000	Weak transcription	HSMM	muscle
5	chr7:65189400-65203600	Weak transcription	Brain Substantia Nigra	brain
6	chr7:65189600-65210600	Weak transcription	A549	lung
7	chr7:65189600-65210800	Weak transcription	NHLF	lung
8	chr7:65190200-65205200	Weak transcription	Aorta	Aorta
9	chr7:65190800-65214600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:65191800-65215000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:65192200-65214200	Weak transcription	Liver	Liver
12	chr7:65192200-65214200	Weak transcription	Dnd41	blood
13	chr7:65194400-65214200	Weak transcription	GM12878-XiMat	blood
14	chr7:65195200-65215400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:65195800-65197200	Active TSS	Stomach Smooth Muscle	stomach
16	chr7:65195800-65197400	Active TSS	Rectal Smooth Muscle	rectum
17	chr7:65196000-65197400	Active TSS	Colon Smooth Muscle	Colon
18	chr7:65196000-65206400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:65196200-65196800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr7:65196200-65196800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr7:65196200-65196800	Enhancers	Small Intestine	intestine
22	chr7:65196200-65197000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:65196200-65197000	Flanking Active TSS	HUVEC	blood vessel
24	chr7:65196200-65197000	Flanking Active TSS	NHEK	skin
25	chr7:65196200-65197200	Active TSS	H1 Cell Line	embryonic stem cell
26	chr7:65196200-65197200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr7:65196200-65201800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:65196400-65196800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:65196400-65196800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:65196400-65196800	Enhancers	Primary B cells from cord blood	blood
31	chr7:65196400-65196800	Enhancers	Brain Angular Gyrus	brain
32	chr7:65196400-65196800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:65196400-65196800	Flanking Active TSS	Esophagus	oesophagus
34	chr7:65196400-65196800	Active TSS	Lung	lung
35	chr7:65196400-65196800	Flanking Active TSS	Pancreas	Pancrea
36	chr7:65196400-65197000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr7:65196400-65197000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:65196400-65197000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:65196400-65197000	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr7:65196400-65197000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:65196400-65197000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:65196400-65197000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:65196400-65197000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr7:65196400-65197000	Active TSS	Primary T cells from cord blood	blood
45	chr7:65196400-65197000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr7:65196400-65197000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:65196400-65197000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr7:65196400-65197000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:65196400-65197000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:65196400-65197000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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