Variant report

Variant	rs13242340
Chromosome Location	chr7:128047412-128047413
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr7:128046999-128048245	HEK293-T-REx	kidney:	n/a	chr7:128047161-128047170 chr7:128048138-128048147
2	MAX	chr7:128047157-128047786	K562	blood:	n/a	chr7:128047568-128047578 chr7:128047568-128047578

No.	Distal block	Cell Line	Cell type
1	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
2	chr7:127980838..127984024-chr7:128045373..128047689,4	K562	blood:
3	chr7:128047161..128050572-chr7:128094387..128098790,7	K562	blood:
4	chr7:128046151..128047662-chr7:128095822..128097503,2	MCF-7	breast:
5	chr7:128047282..128051646-chr7:128071407..128074955,4	MCF-7	breast:
6	chr7:128047161..128050830-chr7:128093884..128097132,5	K562	blood:
7	chr7:128045908..128047608-chr7:128501715..128503909,2	K562	blood:

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000135245	Chromatin interaction
ENSG00000238750	Chromatin interaction
ENSG00000128524	Chromatin interaction
ENSG00000242902	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000228700	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10954184	0.88[ASN][1000 genomes]
rs11765126	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11773251	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11973781	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11977296	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11981766	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11982673	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11983847	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12536006	0.96[ASN][1000 genomes]
rs12706850	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12706851	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13221784	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13222212	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13227646	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13312278	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2076805	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2228075	0.93[ASN][1000 genomes]
rs2278294	0.84[EUR][1000 genomes]
rs34848853	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35649907	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6975115	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7802305	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[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	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	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv515737	chr7:128044035-128050417	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13242340	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs13242340	CICP14	cis	lung	GTEx
rs13242340	IMPDH1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128045600-128047600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:128045600-128048000	Weak transcription	Fetal Heart	heart
3	chr7:128046000-128047600	Enhancers	Primary hematopoietic stem cells	blood
4	chr7:128046000-128047600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:128046000-128048000	Weak transcription	NHLF	lung
6	chr7:128046000-128048800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr7:128046000-128048800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:128046000-128048800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:128046000-128048800	Weak transcription	NH-A	brain
10	chr7:128046000-128048800	Weak transcription	NHDF-Ad	bronchial
11	chr7:128046000-128049000	Weak transcription	Brain Angular Gyrus	brain
12	chr7:128046000-128049000	Enhancers	Fetal Lung	lung
13	chr7:128046000-128049200	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:128046200-128048800	Weak transcription	Small Intestine	intestine
15	chr7:128046400-128047600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:128046400-128047600	Weak transcription	Left Ventricle	heart
17	chr7:128046400-128047800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:128046400-128048400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:128046400-128048400	Enhancers	Stomach Mucosa	stomach
20	chr7:128046400-128048800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr7:128046400-128049000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:128046400-128049000	Weak transcription	HSMMtube	muscle
23	chr7:128046400-128049200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr7:128046400-128049200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr7:128046400-128049200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:128046400-128049200	Weak transcription	Psoas Muscle	Psoas
27	chr7:128046400-128049400	Weak transcription	Aorta	Aorta
28	chr7:128046400-128049400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:128046400-128049600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr7:128046600-128047600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:128046600-128047800	Weak transcription	Liver	Liver
32	chr7:128046600-128047800	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:128046600-128048000	Enhancers	Fetal Muscle Trunk	muscle
34	chr7:128046600-128048000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr7:128046600-128048200	Enhancers	Colon Smooth Muscle	Colon
36	chr7:128046600-128048200	Weak transcription	HMEC	breast
37	chr7:128046600-128048200	Enhancers	K562	blood
38	chr7:128046600-128048400	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr7:128046600-128048600	Enhancers	Fetal Stomach	stomach
40	chr7:128046600-128048800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:128046600-128048800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr7:128046600-128048800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:128046600-128048800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:128046600-128048800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr7:128046600-128048800	Weak transcription	HSMM	muscle
46	chr7:128046600-128049000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:128046600-128049000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:128046600-128049000	Weak transcription	Right Atrium	heart
49	chr7:128046600-128049200	Weak transcription	Pancreas	Pancrea
50	chr7:128046600-128049200	Weak transcription	HUVEC	blood vessel

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