Variant report

Variant	rs11765126
Chromosome Location	chr7:128088973-128088974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128086951..128089126-chr7:128094561..128097810,4	K562	blood:
2	chr7:128082541..128090035-chr7:128090151..128101015,22	MCF-7	breast:
3	chr7:128079136..128080661-chr7:128088834..128090838,2	K562	blood:

Variant related genes	Relation type
ENSG00000273184	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000240758	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10954184	0.82[ASN][1000 genomes]
rs10954186	0.84[ASN][1000 genomes]
rs11765023	0.83[CEU][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.80[ASN][1000 genomes]
rs11773251	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11973781	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11977296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11981766	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11982673	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11983847	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12536006	0.86[ASN][1000 genomes]
rs12706850	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12706851	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13221784	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13222212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13227646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13242340	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13312278	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2076805	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2228075	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.86[ASN][1000 genomes]
rs34848853	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35649907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4566975	0.97[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs55826686	0.84[ASN][1000 genomes]
rs67076895	0.83[ASN][1000 genomes]
rs67091533	0.84[ASN][1000 genomes]
rs6975115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7802305	0.85[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]

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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11765126	IMPDH1	cis	cerebellum	SCAN
rs11765126	ZNF800	cis	parietal	SCAN
rs11765126	ZC3HC1	cis	cerebellum	SCAN
rs11765126	ATP6V1F	cis	parietal	SCAN
rs11765126	CICP14	cis	lung	GTEx
rs11765126	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs11765126	IMPDH1	cis	Adipose Subcutaneous	GTEx
rs11765126	FAM40B	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128075600-128093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:128075600-128093800	Weak transcription	Pancreas	Pancrea
3	chr7:128078600-128095200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:128084000-128090000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:128084600-128095800	Weak transcription	Gastric	stomach
6	chr7:128084800-128092000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:128084800-128093600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:128084800-128093800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:128086400-128095200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:128086600-128090000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:128086600-128093800	Weak transcription	Right Atrium	heart
12	chr7:128086800-128090600	Weak transcription	Left Ventricle	heart
13	chr7:128086800-128093800	Weak transcription	Brain Anterior Caudate	brain
14	chr7:128086800-128093800	Weak transcription	Right Ventricle	heart
15	chr7:128087000-128090200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:128087000-128090200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:128087000-128090200	Weak transcription	Fetal Heart	heart
18	chr7:128087000-128090200	Weak transcription	HSMMtube	muscle
19	chr7:128087000-128092000	Weak transcription	A549	lung
20	chr7:128087000-128092400	Weak transcription	K562	blood
21	chr7:128087000-128093400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr7:128087000-128093600	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:128088000-128089200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:128088000-128090600	Enhancers	Adipose Nuclei	Adipose
25	chr7:128088600-128089000	Enhancers	Stomach Mucosa	stomach
26	chr7:128088600-128090400	Weak transcription	GM12878-XiMat	blood
27	chr7:128088800-128091000	Enhancers	Primary monocytes fromperipheralblood	blood

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