Variant report

Variant	rs6464101
Chromosome Location	chr7:150478052-150478053
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150477338..150480440-chr7:150482121..150485393,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM176B-1	chr7:150477771-150478201	NONHSAT124156

Extended variants
information (count: 19 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4554383	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4725361	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4725938	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4725943	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6464098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464099	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464103	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777104	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7806458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv522859	chr7:150476888-150486169	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs6464101	LR8	cis	multi-tissue	Pritchard
rs6464101	GIMAP5	cis	normal skin	skin_eQTL
rs6464101	TMEM176B	cis	Whole Blood	GTEx
rs6464101	TMEM176A	cis	Whole Blood	GTEx
rs6464101	REPIN1	cis	parietal	SCAN
rs6464101	ABP1	cis	multi-tissue	Pritchard
rs6464101	AOC1	cis	Whole Blood	GTEx
rs6464101	HCA112	cis	multi-tissue	Pritchard
rs6464101	ASB10	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150462800-150480800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:150473600-150479000	Weak transcription	Small Intestine	intestine
3	chr7:150475800-150479800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:150476000-150478800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:150476000-150481000	Weak transcription	HepG2	liver
6	chr7:150476000-150481400	Weak transcription	A549	lung
7	chr7:150476200-150478800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:150476200-150479600	Enhancers	Liver	Liver
9	chr7:150476200-150480800	Weak transcription	Fetal Intestine Large	intestine
10	chr7:150476200-150481000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:150476200-150481400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:150476200-150485200	Weak transcription	Brain Anterior Caudate	brain
13	chr7:150477200-150478600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:150477200-150479600	Enhancers	Fetal Stomach	stomach
15	chr7:150477400-150478200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr7:150477400-150478400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr7:150477400-150478800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:150477400-150479000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:150477400-150479000	Enhancers	Colon Smooth Muscle	Colon
20	chr7:150477400-150479200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:150477400-150479200	Enhancers	Adipose Nuclei	Adipose
22	chr7:150477400-150479200	Enhancers	Colonic Mucosa	Colon
23	chr7:150477400-150479200	Enhancers	Fetal Muscle Leg	muscle
24	chr7:150477400-150479400	Enhancers	NHDF-Ad	bronchial
25	chr7:150477400-150479600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:150477600-150478200	Enhancers	GM12878-XiMat	blood
27	chr7:150477600-150478400	Enhancers	Fetal Kidney	kidney
28	chr7:150477600-150478600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr7:150477600-150485400	Weak transcription	Esophagus	oesophagus
30	chr7:150477800-150478200	Enhancers	Primary B cells from cord blood	blood
31	chr7:150477800-150478200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:150477800-150479400	Enhancers	Duodenum Mucosa	Duodenum
33	chr7:150478000-150478600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:150478000-150479000	Weak transcription	Placenta	Placenta
35	chr7:150478000-150480800	Weak transcription	Fetal Intestine Small	intestine
36	chr7:150478000-150482200	Weak transcription	Right Atrium	heart

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