Variant report

Variant	rs11765023
Chromosome Location	chr7:128101609-128101610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128094251..128097600-chr7:128097947..128102494,8	K562	blood:
2	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
3	chr7:128074510..128075893-chr7:128101137..128102142,3	MCF-7	breast:
4	chr7:128046088..128049904-chr7:128098273..128102609,4	K562	blood:
5	chr7:128067076..128068077-chr7:128101150..128101700,5	K562	blood:
6	chr7:128098205..128100109-chr7:128100150..128103100,2	MCF-7	breast:
7	chr7:128067574..128068208-chr7:128101131..128101971,2	MCF-7	breast:
8	chr7:128069964..128070898-chr7:128101152..128101881,2	MCF-7	breast:
9	chr7:128069956..128070548-chr7:128101194..128101874,3	MCF-7	breast:
10	chr7:128067047..128068038-chr7:128101100..128101735,5	MCF-7	breast:
11	chr7:128100303..128102263-chr7:128104692..128107673,2	K562	blood:
12	chr7:128065959..128066518-chr7:128101125..128101678,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135245	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000272601	Chromatin interaction
ENSG00000228700	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11765126	0.83[CEU][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.80[ASN][1000 genomes]
rs11977296	0.80[ASN][1000 genomes]
rs11981766	0.80[ASN][1000 genomes]
rs11982673	0.82[CHD][hapmap];0.90[JPT][hapmap]
rs12706851	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs13221784	0.89[CEU][hapmap]
rs13222212	0.80[ASN][1000 genomes]
rs13227646	0.80[ASN][1000 genomes]
rs2076805	0.82[CHD][hapmap];0.89[JPT][hapmap];0.81[MEX][hapmap];0.80[ASN][1000 genomes]
rs2228075	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.80[TSI][hapmap]
rs35649907	0.80[ASN][1000 genomes]
rs4566975	0.81[CHD][hapmap]
rs56174902	0.93[ASN][1000 genomes]
rs6975115	0.80[ASN][1000 genomes]
rs7802305	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv608401	chr7:128083454-128108776	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs11765023	IMPDH1	cis	cerebellum	SCAN
rs11765023	ATP6V1F	cis	parietal	SCAN
rs11765023	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs11765023	RP11-274B21.2	cis	lung	GTEx
rs11765023	ZC3HC1	cis	cerebellum	SCAN
rs11765023	RP11-274B21.3	cis	Adipose Subcutaneous	GTEx
rs11765023	CICP14	cis	lung	GTEx
rs11765023	IMPDH1	cis	Adipose Subcutaneous	GTEx
rs11765023	METTL2B	cis	lymphoblastoid	seeQTL
rs11765023	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs11765023	RP11-274B21.4	cis	lung	GTEx
rs11765023	CD5L	trans	cerebellum	SCAN
rs11765023	RP11-274B21.4	cis	Whole Blood	GTEx
rs11765023	ZNF800	cis	parietal	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128096400-128116400	Weak transcription	Lung	lung
2	chr7:128097400-128103400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:128097400-128107800	Weak transcription	Spleen	Spleen
4	chr7:128097600-128101800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:128097600-128102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:128097600-128116200	Weak transcription	Fetal Kidney	kidney
7	chr7:128097600-128116200	Weak transcription	Left Ventricle	heart
8	chr7:128097800-128102000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:128097800-128116400	Weak transcription	Fetal Stomach	stomach
10	chr7:128097800-128116400	Weak transcription	Gastric	stomach
11	chr7:128097800-128116400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:128098200-128102800	Weak transcription	Right Ventricle	heart
13	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:128098400-128108000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:128098600-128102000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:128098600-128102600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:128098600-128104800	Weak transcription	Osteobl	bone
19	chr7:128098600-128116200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:128098800-128108200	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:128099000-128102600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:128099000-128116200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:128099000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:128099200-128102400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:128099200-128116400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:128099400-128116200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:128099400-128116400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr7:128099800-128102200	Weak transcription	Fetal Heart	heart
29	chr7:128099800-128102600	Weak transcription	NHLF	lung
30	chr7:128099800-128102800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:128099800-128102800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:128099800-128103200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:128099800-128104800	Weak transcription	Brain Substantia Nigra	brain
34	chr7:128099800-128116200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr7:128099800-128116200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:128099800-128116400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr7:128099800-128116400	Weak transcription	Fetal Intestine Small	intestine
38	chr7:128099800-128116400	Weak transcription	Ovary	ovary
39	chr7:128100000-128102600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:128100000-128102800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:128100000-128102800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:128100000-128104200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:128100000-128108000	Weak transcription	Fetal Brain Female	brain
44	chr7:128100000-128109000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:128100000-128116200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:128100000-128116200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:128100000-128116200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:128100000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:128100000-128116400	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:128100000-128116400	Weak transcription	Esophagus	oesophagus

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