Variant report

Variant	rs370841349
Chromosome Location	chr7:150067492-150067493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150064930-150072034	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:150067350-150067987	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:150065018-150068478	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:150065024-150068774	GM12892	blood:	n/a	n/a
5	POLR2A	chr7:150065045-150069575	GM18526	blood:	n/a	n/a
6	POLR2A	chr7:150067065-150067652	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:150064961-150067671	GM12891	blood:	n/a	n/a
8	POLR2A	chr7:150065010-150072093	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:150064939-150068709	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:150065058-150068789	K562	blood:	n/a	n/a
11	POLR2A	chr7:150064808-150069359	K562	blood:	n/a	n/a
12	POLR2A	chr7:150065044-150070916	GM19193	blood:	n/a	n/a
13	POLR2A	chr7:150067285-150067571	MCF-7	breast:	n/a	n/a
14	POLR2A	chr7:150067070-150067610	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:150064841-150068822	HL-60	blood:	n/a	n/a
16	MXI1	chr7:150064165-150068175	SK-N-SH	brain:	n/a	chr7:150068088-150068103 chr7:150065688-150065703 chr7:150065860-150065869 chr7:150068090-150068105 chr7:150065686-150065701
17	POLR2A	chr7:150065440-150067651	GM12891	blood:	n/a	n/a
18	HEY1	chr7:150065020-150068404	K562	blood:	n/a	chr7:150065245-150065260 chr7:150065724-150065739
19	POLR2A	chr7:150064968-150071009	K562	blood:	n/a	n/a
20	TBL1XR1	chr7:150067447-150067630	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:150065515-150069259	HepG2	liver:	n/a	n/a
22	POLR2A	chr7:150065009-150070940	GM18505	blood:	n/a	n/a
23	POLR2A	chr7:150067316-150067630	GM12878	blood:	n/a	n/a
24	NRF1	chr7:150065093-150067570	SK-N-SH	brain:	n/a	chr7:150065754-150065763 chr7:150066170-150066184
25	POLR2A	chr7:150064860-150068447	GM12891	blood:	n/a	n/a
26	POLR2A	chr7:150064952-150072087	GM12892	blood:	n/a	n/a
27	ELF1	chr7:150067129-150067521	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:150064808-150068782	HepG2	liver:	n/a	n/a
29	POLR2A	chr7:150067255-150067556	MCF-7	breast:	n/a	n/a
30	RCOR1	chr7:150064690-150068362	IMR90	lung:	n/a	n/a
31	POLR2A	chr7:150064903-150067544	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr7:150065378-150067569	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:150067172-150068109	GM12891	blood:	n/a	n/a
34	NR2F2	chr7:150066080-150067747	K562	blood:	n/a	n/a
35	ZNF263	chr7:150065957-150067504	HEK293-T-REx	kidney:	n/a	chr7:150066408-150066417
36	POLR2A	chr7:150064843-150076606	K562	blood:	n/a	n/a
37	POLR2A	chr7:150067303-150068123	K562	blood:	n/a	n/a
38	POLR2A	chr7:150066051-150067602	K562	blood:	n/a	n/a
39	POLR2A	chr7:150065057-150067878	HepG2	liver:	n/a	n/a
40	POLR2A	chr7:150064982-150072072	HL-60	blood:	n/a	n/a
41	POLR2A	chr7:150065008-150067946	GM19099	blood:	n/a	n/a
42	POLR2A	chr7:150064898-150068261	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr7:150064851-150069341	GM12892	blood:	n/a	n/a
44	WRNIP1	chr7:150066188-150067994	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150064606..150067565-chr7:150746513..150748694,2	MCF-7	breast:
2	chr7:150063876..150080670-chr7:150093696..150109118,65	MCF-7	breast:
3	chr7:150016171..150021897-chr7:150062899..150068795,19	MCF-7	breast:
4	chr7:150018458..150023402-chr7:150064103..150067772,7	MCF-7	breast:
5	chr7:150066102..150068231-chr7:150757822..150759698,2	MCF-7	breast:
6	chr7:150017186..150022010-chr7:150063447..150067622,10	K562	blood:
7	chr7:150063752..150069023-chr7:150095376..150104764,21	MCF-7	breast:
8	chr7:150017186..150022141-chr7:150063447..150068849,12	K562	blood:
9	chr7:149570954..149573807-chr7:150065336..150068583,3	MCF-7	breast:
10	chr7:150065484..150068056-chr7:150811875..150813765,2	MCF-7	breast:
11	chr7:150025749..150027399-chr7:150065902..150067517,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF775-1	chr7:150066760-150067691	NONHSAT124115
2	lnc-ZNF775-1	chr7:150066760-150067500	NONHSAT124117

No data

Variant related genes	Relation type
REPIN1	TF binding region
ENSG00000106526	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000213199	Chromatin interaction
ENSG00000188707	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000196456	Chromatin interaction
ENSG00000171130	Chromatin interaction
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv889453	chr7:150009838-150104410	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv889454	chr7:150009838-150115183	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv889455	chr7:150013393-150104410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv889456	chr7:150013393-150115183	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv889457	chr7:150020295-150104410	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv889458	chr7:150020295-150115183	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv521407	chr7:150020295-150118590	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv465211	chr7:150035526-150104410	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv608991	chr7:150035526-150104410	Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv889459	chr7:150041610-150071464	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv608992	chr7:150045910-150115183	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
18	nsv889460	chr7:150060163-150079459	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
19	nsv889461	chr7:150060163-150081485	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
20	nsv889462	chr7:150060163-150108536	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	esv1814724	chr7:150067445-150070663	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150064600-150067800	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr7:150064800-150067600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:150065000-150068400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:150065400-150073600	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr7:150066000-150067600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:150066200-150067600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr7:150066200-150067800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr7:150066200-150067800	Flanking Active TSS	Fetal Thymus	thymus
9	chr7:150066200-150068000	Flanking Active TSS	Colonic Mucosa	Colon
10	chr7:150066200-150069200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
11	chr7:150066400-150067600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr7:150066400-150067600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr7:150066400-150067600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:150066400-150067600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:150066400-150067600	Flanking Active TSS	Liver	Liver
16	chr7:150066400-150067600	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr7:150066400-150067600	Flanking Active TSS	HUVEC	blood vessel
18	chr7:150066400-150067800	Flanking Active TSS	NH-A	brain
19	chr7:150066400-150068400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
20	chr7:150066400-150068600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:150066600-150067600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:150066600-150067600	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr7:150066600-150067600	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr7:150066600-150067600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr7:150066600-150067600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
26	chr7:150066600-150067800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:150066600-150067800	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr7:150066600-150067800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:150066600-150067800	Transcr. at gene 5' and 3'	K562	blood
30	chr7:150066600-150068000	Flanking Active TSS	Osteobl	bone
31	chr7:150066600-150068400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
32	chr7:150066800-150067600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:150066800-150067600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:150066800-150067600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:150066800-150067600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:150066800-150067600	Transcr. at gene 5' and 3'	Pancreas	Pancrea
37	chr7:150066800-150067600	Flanking Active TSS	Psoas Muscle	Psoas
38	chr7:150066800-150067600	Flanking Active TSS	NHDF-Ad	bronchial
39	chr7:150066800-150067800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:150066800-150067800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:150066800-150067800	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr7:150066800-150067800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:150066800-150067800	Flanking Active TSS	HSMMtube	muscle
44	chr7:150066800-150067800	Flanking Active TSS	NHLF	lung
45	chr7:150066800-150068000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:150066800-150068000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr7:150066800-150068000	Flanking Active TSS	Fetal Heart	heart
48	chr7:150066800-150068200	Weak transcription	Aorta	Aorta
49	chr7:150066800-150068200	Transcr. at gene 5' and 3'	Thymus	Thymus
50	chr7:150066800-150068200	Enhancers	HMEC	breast

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