Variant report

Variant	rs12536006
Chromosome Location	chr7:128048977-128048978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:128048760-128049356	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:128048788-128049225	K562	blood:	n/a	n/a
3	POLR2A	chr7:128048565-128049406	K562	blood:	n/a	n/a
4	MXI1	chr7:128048865-128049251	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr7:128048126-128050706	NB4	blood:	n/a	n/a
6	POLR2A	chr7:128048822-128050596	Hela-S3	cervix:	n/a	n/a
7	NR2F2	chr7:128048091-128050803	K562	blood:	n/a	n/a
8	SMARCB1	chr7:128048959-128050565	Hela-S3	cervix:	n/a	n/a
9	MAX	chr7:128048182-128050697	NB4	blood:	n/a	n/a
10	MAZ	chr7:128048724-128051079	IMR90	lung:	n/a	n/a
11	TEAD4	chr7:128048578-128050826	K562	blood:	n/a	n/a
12	POLR2A	chr7:128048687-128049762	K562	blood:	n/a	n/a
13	PML	chr7:128048855-128050772	K562	blood:	n/a	n/a
14	SIN3A	chr7:128048728-128050658	H1-hESC	embryonic stem cell:	n/a	chr7:128048826-128048835
15	ZBTB7A	chr7:128048585-128049395	K562	blood:	n/a	n/a
16	HDAC2	chr7:128048579-128049836	K562	blood:	n/a	n/a
17	MAX	chr7:128048359-128050715	K562	blood:	n/a	n/a
18	ZBTB7A	chr7:128048526-128049339	K562	blood:	n/a	n/a
19	ELF1	chr7:128048854-128049292	K562	blood:	n/a	n/a
20	CBX3	chr7:128048569-128050903	K562	blood:	n/a	n/a
21	HEY1	chr7:128048684-128049041	K562	blood:	n/a	n/a
22	CEBPB	chr7:128048725-128048998	IMR90	lung:	n/a	n/a
23	STAT3	chr7:128048870-128049084	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr7:128048667-128050549	NB4	blood:	n/a	n/a
25	UBTF	chr7:128048758-128050699	K562	blood:	n/a	n/a
26	JUND	chr7:128048841-128050679	K562	blood:	n/a	chr7:128048871-128048882 chr7:128049764-128049773
27	MAZ	chr7:128048651-128050767	K562	blood:	n/a	n/a
28	RCOR1	chr7:128048596-128050784	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128048546..128051424-chr8:143807465..143809769,2	MCF-7	breast:
2	chr7:128048293..128050679-chr7:128502108..128504312,2	MCF-7	breast:
3	chr7:127982196..127985036-chr7:128048348..128051893,5	MCF-7	breast:
4	chr7:128047161..128050572-chr7:128094387..128098790,7	K562	blood:
5	chr7:128047282..128051646-chr7:128071407..128074955,4	MCF-7	breast:
6	chr7:128047161..128050830-chr7:128093884..128097132,5	K562	blood:

No data

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000238750	Chromatin interaction
ENSG00000128524	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000242902	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000253806	Chromatin interaction
ENSG00000228700	Chromatin interaction
ENSG00000130193	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000253741	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10954184	0.88[ASN][1000 genomes]
rs11765126	0.86[ASN][1000 genomes]
rs11773251	0.89[ASN][1000 genomes]
rs11973781	0.97[ASN][1000 genomes]
rs11977296	0.86[ASN][1000 genomes]
rs11981766	0.86[ASN][1000 genomes]
rs11982673	0.96[ASN][1000 genomes]
rs11983847	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12706850	0.91[ASN][1000 genomes]
rs12706851	0.86[ASN][1000 genomes]
rs13221784	0.97[ASN][1000 genomes]
rs13222212	0.86[ASN][1000 genomes]
rs13227646	0.86[ASN][1000 genomes]
rs13242340	0.96[ASN][1000 genomes]
rs13312278	0.94[ASN][1000 genomes]
rs2076805	0.86[ASN][1000 genomes]
rs2228075	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34848853	0.93[ASN][1000 genomes]
rs35649907	0.86[ASN][1000 genomes]
rs6975115	0.86[ASN][1000 genomes]
rs7802305	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12536006	IMPDH1	cis	Adipose Subcutaneous	GTEx
rs12536006	RP11-274B21.2	cis	lung	GTEx
rs12536006	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs12536006	RP11-274B21.2	cis	Nerve Tibial	GTEx
rs12536006	RP11-274B21.4	cis	lung	GTEx
rs12536006	CICP14	cis	lung	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128046000-128049000	Weak transcription	Brain Angular Gyrus	brain
2	chr7:128046000-128049000	Enhancers	Fetal Lung	lung
3	chr7:128046000-128049200	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:128046400-128049000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:128046400-128049000	Weak transcription	HSMMtube	muscle
6	chr7:128046400-128049200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr7:128046400-128049200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr7:128046400-128049200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:128046400-128049200	Weak transcription	Psoas Muscle	Psoas
10	chr7:128046400-128049400	Weak transcription	Aorta	Aorta
11	chr7:128046400-128049400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr7:128046400-128049600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr7:128046600-128049000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:128046600-128049000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:128046600-128049000	Weak transcription	Right Atrium	heart
16	chr7:128046600-128049200	Weak transcription	Pancreas	Pancrea
17	chr7:128046600-128049200	Weak transcription	HUVEC	blood vessel
18	chr7:128046600-128049200	Weak transcription	Osteobl	bone
19	chr7:128046600-128049400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:128046800-128049000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:128046800-128049000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:128046800-128049200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr7:128047000-128049000	Weak transcription	Brain Substantia Nigra	brain
24	chr7:128047200-128049200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:128047200-128049200	Enhancers	Gastric	stomach
26	chr7:128047200-128049400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr7:128047400-128049200	Enhancers	Lung	lung
28	chr7:128047600-128049000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
29	chr7:128047600-128049000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:128047600-128049000	Enhancers	Duodenum Mucosa	Duodenum
31	chr7:128047600-128049200	Enhancers	Left Ventricle	heart
32	chr7:128047600-128049400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:128047600-128049600	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr7:128047800-128049000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
35	chr7:128047800-128049000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr7:128047800-128049200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
37	chr7:128047800-128049200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr7:128047800-128049200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:128047800-128049200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:128047800-128049200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr7:128047800-128049400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:128047800-128049400	Enhancers	Liver	Liver
43	chr7:128047800-128049400	Bivalent Enhancer	Fetal Thymus	thymus
44	chr7:128047800-128050400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:128047800-128051000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:128048000-128049000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr7:128048000-128049200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr7:128048000-128049200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr7:128048000-128049200	Enhancers	Esophagus	oesophagus
50	chr7:128048000-128049400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell

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