Variant report

Variant	rs35593494
Chromosome Location	chr7:150808461-150808462
allele	C/T
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	FOXP2	chr7:150808180-150808472	PFSK-1	brain:	n/a	n/a
2	FOXM1	chr7:150808129-150808526	GM12878	blood:	n/a	n/a
3	CTCF	chr7:150808184-150808481	MCF-7	breast:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
4	POLR2A	chr7:150808103-150808502	K562	blood:	n/a	n/a
5	CTCF	chr7:150808197-150808501	GM10266	blood:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
6	ZNF263	chr7:150806480-150808544	HEK293-T-REx	kidney:	n/a	chr7:150807263-150807272
7	SIN3AK20	chr7:150808134-150808524	SK-N-SH	brain:	n/a	n/a
8	RAD21	chr7:150807981-150808636	A549	lung:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
9	RAD21	chr7:150808056-150808539	ECC-1	luminal epithelium:	n/a	chr7:150808511-150808523 chr7:150808312-150808331
10	CTCF	chr7:150808107-150808569	GM12878	blood:	n/a	chr7:150808314-150808332 chr7:150808508-150808521 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
11	CTCF	chr7:150807785-150808729	SK-N-SH	brain:	n/a	chr7:150808314-150808332 chr7:150808508-150808521 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
12	RAD21	chr7:150808031-150808576	IMR90	lung:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
13	RUNX3	chr7:150808088-150808517	GM12878	blood:	n/a	n/a
14	CTCF	chr7:150808173-150808508	GM19239	blood:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
15	RAD21	chr7:150808099-150808527	H1-hESC	embryonic stem cell:	n/a	chr7:150808511-150808523 chr7:150808312-150808331
16	MAX	chr7:150808043-150808574	A549	lung:	n/a	chr7:150808499-150808508 chr7:150808498-150808509 chr7:150808497-150808510 chr7:150808498-150808509 chr7:150808499-150808509 chr7:150808499-150808508 chr7:150808498-150808508 chr7:150808499-150808508
17	CTCF	chr7:150808178-150808504	Gliobla	brain:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
18	RUNX3	chr7:150808137-150808521	GM12878	blood:	n/a	n/a
19	EGR1	chr7:150808106-150808483	H1-hESC	embryonic stem cell:	n/a	chr7:150808115-150808125 chr7:150808116-150808126
20	ZNF143	chr7:150808172-150808473	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr7:150807712-150808527	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr7:150808165-150808509	GM19240	blood:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
23	RAD21	chr7:150807907-150808731	HCT-116	colon:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
24	STAT1	chr7:150808209-150808500	GM12878	blood:	n/a	n/a
25	RAD21	chr7:150807935-150808673	MCF-7	breast:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
26	CTCF	chr7:150808088-150808533	H1-hESC	embryonic stem cell:	n/a	chr7:150808314-150808332 chr7:150808508-150808521 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
27	CTCF	chr7:150808086-150808520	HepG2	liver:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
28	CTCF	chr7:150808168-150808479	MCF-7	breast:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
29	RAD21	chr7:150808119-150808526	Hela-S3	cervix:	n/a	chr7:150808511-150808523 chr7:150808312-150808331
30	RAD21	chr7:150807535-150808672	SK-N-SH	brain:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
31	MAZ	chr7:150808148-150808472	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr7:150807742-150808759	A549	lung:	n/a	chr7:150808314-150808332 chr7:150808508-150808521 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
33	CTCF	chr7:150808183-150808476	Fibrobl	skin:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
34	SIN3A	chr7:150808074-150808484	H1-hESC	embryonic stem cell:	n/a	n/a
35	SMC3	chr7:150808110-150808490	GM12878	blood:	n/a	chr7:150808316-150808330
36	POLR2A	chr7:150808386-150808558	ProgFib	skin:	n/a	n/a
37	YY1	chr7:150808140-150808493	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr7:150808084-150808515	HepG2	liver:	n/a	chr7:150808312-150808331
39	RAD21	chr7:150807988-150808599	MCF-7	breast:	n/a	chr7:150808511-150808523 chr7:150808312-150808331 chr7:150808555-150808564
40	JUND	chr7:150808153-150808470	K562	blood:	n/a	n/a
41	CTCF	chr7:150808182-150808471	Hela-S3	cervix:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
42	CTCF	chr7:150808202-150808461	ProgFib	skin:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
43	CTCF	chr7:150808087-150808493	K562	blood:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
44	MAZ	chr7:150807968-150809080	IMR90	lung:	n/a	chr7:150808499-150808508 chr7:150808498-150808509 chr7:150808497-150808510 chr7:150808498-150808509 chr7:150808499-150808509 chr7:150808499-150808508 chr7:150808498-150808508 chr7:150808499-150808508
45	RCOR1	chr7:150808145-150808502	GM12878	blood:	n/a	n/a
46	SMC3	chr7:150808149-150808498	HepG2	liver:	n/a	chr7:150808316-150808330
47	ZNF143	chr7:150808168-150808485	K562	blood:	n/a	n/a
48	CTCF	chr7:150808175-150808512	Medullo	brain:	n/a	chr7:150808314-150808332 chr7:150808381-150808394 chr7:150808316-150808329 chr7:150808309-150808330
49	NR2F2	chr7:150807859-150808626	K562	blood:	n/a	n/a
50	EGR1	chr7:150808130-150808471	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150784550..150785319-chr7:150808021..150808851,2	MCF-7	breast:
2	chr7:150709574..150710550-chr7:150807803..150808799,4	MCF-7	breast:
3	chr7:150807803..150810009-chr7:150811928..150814974,4	MCF-7	breast:
4	chr7:150788184..150788855-chr7:150807817..150808798,5	MCF-7	breast:
5	chr7:150773709..150774601-chr7:150807843..150808759,3	MCF-7	breast:
6	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
7	chr7:150725081..150726362-chr7:150807825..150808708,6	MCF-7	breast:
8	chr7:150682955..150683715-chr7:150807833..150808490,2	K562	blood:
9	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:
10	chr7:150685677..150686197-chr7:150807863..150808771,3	K562	blood:
11	chr7:150788167..150789084-chr7:150808052..150808593,2	MCF-7	breast:
12	chr7:150475546..150476472-chr7:150808169..150808775,2	K562	blood:
13	chr7:150806359..150808651-chr7:150915357..150918189,2	K562	blood:
14	chr7:150660003..150661126-chr7:150807869..150808616,4	K562	blood:
15	chr7:150806408..150808627-chr7:150809184..150811009,2	MCF-7	breast:
16	chr7:150595552..150596160-chr7:150807947..150808760,2	K562	blood:
17	chr7:150756739..150757952-chr7:150807848..150809287,3	MCF-7	breast:

Variant related genes	Relation type
AGAP3	TF binding region
ENSG00000164889	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000197150	Chromatin interaction
ENSG00000181652	Chromatin interaction
ENSG00000164896	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34739503	0.92[AFR][1000 genomes]
rs35761234	0.85[AFR][1000 genomes]
rs60011103	1.00[AFR][1000 genomes]
rs73476739	0.92[AFR][1000 genomes]
rs73476747	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS 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	45 gene(s)	inside rSNPs	diseases
14	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150785000-150812000	Weak transcription	Aorta	Aorta
2	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
3	chr7:150792600-150810200	Weak transcription	Esophagus	oesophagus
4	chr7:150794000-150808800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:150797400-150810200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:150799000-150811200	Weak transcription	Right Atrium	heart
7	chr7:150802200-150810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:150802200-150810200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:150802200-150810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:150802400-150810600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
12	chr7:150802800-150810200	Weak transcription	HUVEC	blood vessel
13	chr7:150803200-150810000	Weak transcription	NH-A	brain
14	chr7:150803800-150810400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:150804000-150810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:150805000-150808600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:150805600-150808600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr7:150805800-150808600	Enhancers	HSMM	muscle
19	chr7:150805800-150809000	Enhancers	Fetal Muscle Trunk	muscle
20	chr7:150806200-150809000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:150806200-150809200	Weak transcription	HepG2	liver
22	chr7:150806200-150810400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr7:150806400-150808600	Enhancers	NHLF	lung
24	chr7:150806400-150810200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:150806600-150808600	Enhancers	Placenta	Placenta
26	chr7:150806800-150808600	Enhancers	Brain Cingulate Gyrus	brain
27	chr7:150806800-150810200	Weak transcription	Osteobl	bone
28	chr7:150807000-150808600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr7:150807000-150810400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:150807200-150809200	Genic enhancers	Fetal Stomach	stomach
31	chr7:150807200-150809600	Enhancers	Stomach Mucosa	stomach
32	chr7:150807200-150810600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:150807400-150808600	Enhancers	Brain Hippocampus Middle	brain
34	chr7:150807400-150808600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:150807400-150808600	Enhancers	Lung	lung
36	chr7:150807400-150808600	Enhancers	Spleen	Spleen
37	chr7:150807400-150808800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:150807400-150809800	Enhancers	Fetal Heart	heart
39	chr7:150807400-150811000	Enhancers	Pancreas	Pancrea
40	chr7:150807600-150808600	Enhancers	Brain Angular Gyrus	brain
41	chr7:150807600-150808600	Enhancers	Brain Substantia Nigra	brain
42	chr7:150807600-150809000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:150807800-150808600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr7:150807800-150808600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:150807800-150808600	Enhancers	Brain Germinal Matrix	brain
46	chr7:150807800-150808600	Enhancers	Fetal Brain Female	brain
47	chr7:150807800-150808600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr7:150807800-150808600	Enhancers	Right Ventricle	heart
49	chr7:150807800-150808600	Enhancers	NHEK	skin
50	chr7:150807800-150809000	Enhancers	Fetal Muscle Leg	muscle

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