Variant report

Variant	rs11761662
Chromosome Location	chr7:128050417-128050418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:145)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:145 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr7:128049624-128050609	Hela-S3	cervix:	n/a	n/a
2	BHLHE40	chr7:128049253-128050704	K562	blood:	n/a	chr7:128049741-128049757
3	RCOR1	chr7:128049598-128050610	Hela-S3	cervix:	n/a	n/a
4	MAX	chr7:128049613-128050773	Hela-S3	cervix:	n/a	n/a
5	NFIC	chr7:128050130-128050846	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr7:128049541-128050440	PFSK-1	brain:	n/a	n/a
7	REST	chr7:128050134-128050638	A549	lung:	n/a	chr7:128050324-128050332
8	RCOR1	chr7:128049322-128050610	K562	blood:	n/a	n/a
9	TAF1	chr7:128050098-128050451	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr7:128050303-128050565	K562	blood:	n/a	n/a
11	E2F6	chr7:128050303-128050574	K562	blood:	n/a	n/a
12	MXI1	chr7:128049623-128050462	GM12878	blood:	n/a	n/a
13	MAX	chr7:128049409-128050844	A549	lung:	n/a	n/a
14	MAX	chr7:128049457-128050713	SK-N-SH	brain:	n/a	n/a
15	MXI1	chr7:128049164-128050981	IMR90	lung:	n/a	n/a
16	HA-E2F1	chr7:128049410-128051408	MCF-7	breast:	n/a	chr7:128049581-128049590
17	TBL1XR1	chr7:128050292-128050528	K562	blood:	n/a	n/a
18	CTCF	chr7:128050280-128050430	HCPEpiC	choroid plexus:	n/a	n/a
19	E2F4	chr7:128050296-128050626	MCF10A-Er-Src	breast:	n/a	n/a
20	REST	chr7:128050181-128050484	K562	blood:	n/a	chr7:128050324-128050332
21	ZNF263	chr7:128049003-128050762	HEK293-T-REx	kidney:	n/a	n/a
22	POLR2A	chr7:128049673-128050488	MCF-7	breast:	n/a	n/a
23	POLR2A	chr7:128049534-128050449	HUVEC	blood vessel:	n/a	n/a
24	MYC	chr7:128048126-128050706	NB4	blood:	n/a	n/a
25	MAX	chr7:128049492-128050879	MCF-7	breast:	n/a	n/a
26	CREB1	chr7:128049590-128050547	A549	lung:	n/a	n/a
27	RFX5	chr7:128049695-128050717	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr7:128049546-128050640	HCT-116	colon:	n/a	n/a
29	UBTF	chr7:128049529-128050631	K562	blood:	n/a	n/a
30	HCFC1	chr7:128050234-128050581	K562	blood:	n/a	n/a
31	POLR2A	chr7:128049439-128050615	K562	blood:	n/a	n/a
32	MYC	chr7:128050025-128050579	MCF10A-Er-Src	breast:	n/a	n/a
33	TAF1	chr7:128049654-128050479	SK-N-SH	brain:	n/a	n/a
34	TFAP2C	chr7:128049611-128050919	Hela-S3	cervix:	n/a	n/a
35	PML	chr7:128049589-128050456	GM12878	blood:	n/a	n/a
36	SP1	chr7:128050000-128050788	A549	lung:	n/a	n/a
37	MAX	chr7:128050269-128050603	K562	blood:	n/a	n/a
38	POLR2A	chr7:128049591-128050534	U87	brain:	n/a	n/a
39	POLR2A	chr7:128048822-128050596	Hela-S3	cervix:	n/a	n/a
40	TBP	chr7:128050158-128050578	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAZ	chr7:128049635-128050456	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:128049720-128050500	PANC-1	pancreas:	n/a	n/a
43	CCNT2	chr7:128049131-128050582	K562	blood:	n/a	chr7:128049714-128049723
44	NR2F2	chr7:128048091-128050803	K562	blood:	n/a	n/a
45	TAF1	chr7:128049725-128050548	A549	lung:	n/a	n/a
46	POLR2A	chr7:128050364-128050550	Hela-S3	cervix:	n/a	n/a
47	SMARCB1	chr7:128048959-128050565	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr7:128049123-128050702	HL-60	blood:	n/a	n/a
49	ZKSCAN1	chr7:128050192-128050575	Hela-S3	cervix:	n/a	n/a
50	EP300	chr7:128050213-128050559	K562	blood:	n/a	chr7:128050310-128050324

No data

(count:8 , 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	chr7:128049014..128051472-chr7:128115731..128117859,3	K562	blood:
6	chr7:128047282..128051646-chr7:128071407..128074955,4	MCF-7	breast:
7	chr7:128049232..128052115-chr7:128095566..128097196,2	MCF-7	breast:
8	chr7:128047161..128050830-chr7:128093884..128097132,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IMPDH1-1	chr7:128050273-128050501	NONHSAT123189

No data

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000130193	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000228700	Chromatin interaction
ENSG00000253806	Chromatin interaction
ENSG00000238750	Chromatin interaction
ENSG00000165055	Chromatin interaction
ENSG00000253741	Chromatin interaction
ENSG00000128524	Chromatin interaction
ENSG00000242902	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11767993	0.88[AMR][1000 genomes]
rs11770604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs11771484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772734	1.00[AFR][1000 genomes]
rs12530672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes]
rs12532513	0.88[AMR][1000 genomes]
rs12540658	1.00[AFR][1000 genomes]
rs34742251	0.86[CEU][hapmap]
rs55669239	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57890423	0.88[AMR][1000 genomes]
rs6467181	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7794447	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11761662	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx
rs11761662	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs11761662	RP11-274B21.10	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128047800-128051000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:128048400-128050800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:128049000-128051000	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr7:128049200-128050600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:128049200-128050600	Active TSS	Brain Cingulate Gyrus	brain
6	chr7:128049200-128050600	Active TSS	Left Ventricle	heart
7	chr7:128049200-128050800	Bivalent/Poised TSS	Thymus	Thymus
8	chr7:128049400-128050600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:128049400-128050600	Active TSS	Colon Smooth Muscle	Colon
10	chr7:128049400-128050600	Active TSS	Gastric	stomach
11	chr7:128049400-128050600	Active TSS	Rectal Smooth Muscle	rectum
12	chr7:128049400-128050600	Active TSS	Small Intestine	intestine
13	chr7:128049400-128050800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr7:128049400-128050800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:128049400-128050800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:128049400-128050800	Active TSS	Aorta	Aorta
17	chr7:128049400-128050800	Active TSS	Esophagus	oesophagus
18	chr7:128049400-128050800	Active TSS	Ovary	ovary
19	chr7:128049400-128050800	Active TSS	Psoas Muscle	Psoas
20	chr7:128049400-128051000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:128049400-128051000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr7:128049600-128050600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:128049600-128050600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr7:128049600-128050600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:128049600-128050600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:128049600-128050600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:128049600-128050600	Active TSS	Brain Hippocampus Middle	brain
28	chr7:128049600-128050600	Active TSS	Fetal Kidney	kidney
29	chr7:128049600-128050600	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr7:128049600-128050600	Active TSS	Stomach Mucosa	stomach
31	chr7:128049600-128050600	Active TSS	Spleen	Spleen
32	chr7:128049600-128050600	Active TSS	NHLF	lung
33	chr7:128049600-128050800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr7:128049600-128050800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:128049600-128050800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:128049600-128050800	Active TSS	Brain Angular Gyrus	brain
37	chr7:128049600-128050800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
38	chr7:128049600-128050800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:128049600-128051000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr7:128049600-128051000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr7:128049600-128051000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr7:128049600-128051000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:128049600-128051000	Active TSS	Placenta Amnion	Placenta Amnion
44	chr7:128049600-128051000	Active TSS	Right Ventricle	heart
45	chr7:128049600-128051000	Active TSS	NHDF-Ad	bronchial
46	chr7:128049600-128051400	Active TSS	A549	lung
47	chr7:128049800-128050600	Active TSS	Lung	lung
48	chr7:128049800-128050600	Active TSS	Pancreas	Pancrea
49	chr7:128049800-128050800	Active TSS	Colonic Mucosa	Colon
50	chr7:128049800-128050800	Active TSS	Stomach Smooth Muscle	stomach

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