Variant report

Variant	rs7129009
Chromosome Location	chr11:77348310-77348311
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77345294..77350451-chr11:77530428..77533693,5	K562	blood:
2	chr11:77330004..77332992-chr11:77346555..77348948,4	K562	blood:
3	chr11:77323618..77326962-chr11:77347441..77350809,3	MCF-7	breast:
4	chr11:77347337..77349046-chr11:77756729..77759621,2	K562	blood:
5	chr11:77348140..77348925-chr11:102217699..102218414,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000074201	Chromatin interaction
ENSG00000110330	Chromatin interaction
ENSG00000151364	Chromatin interaction
ENSG00000087884	Chromatin interaction
ENSG00000048649	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2013296	0.82[AMR][1000 genomes]
rs4945188	0.81[AMR][1000 genomes]
rs7946637	0.87[AMR][1000 genomes]
rs9634032	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv468641	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv555452	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv1035494	chr11:77309696-77431228	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7129009	INTS4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77345800-77348400	Enhancers	Spleen	Spleen
2	chr11:77346800-77348400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:77347000-77349200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:77347200-77348600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr11:77347200-77349000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:77347200-77349600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:77347200-77349600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:77347400-77348400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:77347400-77348400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:77347400-77348400	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr11:77347400-77349000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr11:77347400-77349400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:77347400-77349400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:77347400-77349600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:77347400-77349600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr11:77347600-77348600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr11:77347600-77349000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:77347600-77349000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:77347600-77349000	Active TSS	Fetal Intestine Small	intestine
20	chr11:77347600-77349000	Active TSS	GM12878-XiMat	blood
21	chr11:77347600-77349200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:77347600-77349200	Active TSS	Colonic Mucosa	Colon
23	chr11:77347600-77349200	Active TSS	Pancreas	Pancrea
24	chr11:77347600-77349200	Active TSS	A549	lung
25	chr11:77347600-77349400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:77347600-77349400	Active TSS	Right Atrium	heart
27	chr11:77347600-77349400	Active TSS	NHLF	lung
28	chr11:77347600-77349600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:77347600-77349600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:77347600-77349600	Active TSS	Fetal Muscle Trunk	muscle
31	chr11:77347800-77348400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr11:77347800-77348400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:77347800-77349000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:77347800-77349000	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr11:77347800-77349000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:77347800-77349000	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr11:77347800-77349000	Active TSS	Muscle Satellite Cultured Cells	--
38	chr11:77347800-77349000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr11:77347800-77349000	Bivalent/Poised TSS	HepG2	liver
40	chr11:77347800-77349000	Active TSS	K562	blood
41	chr11:77347800-77349200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:77347800-77349200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:77347800-77349200	Active TSS	Esophagus	oesophagus
44	chr11:77347800-77349200	Active TSS	Fetal Intestine Large	intestine
45	chr11:77347800-77349200	Active TSS	Lung	lung
46	chr11:77347800-77349200	Active TSS	NHDF-Ad	bronchial
47	chr11:77347800-77349200	Active TSS	NHEK	skin
48	chr11:77347800-77349400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:77347800-77349400	Active TSS	Ovary	ovary
50	chr11:77347800-77349600	Active TSS	Psoas Muscle	Psoas

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