Variant report

Variant	rs527258611
Chromosome Location	chr7:65878948-65878949
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	MAX	chr7:65878134-65879164	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3AK20	chr7:65878564-65879026	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr7:65878301-65879151	H1-hESC	embryonic stem cell:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
4	CTCF	chr7:65878698-65879085	H1-hESC	embryonic stem cell:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
5	CTCF	chr7:65878654-65879062	GM19238	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
6	MAX	chr7:65878123-65879175	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr7:65878113-65879192	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr7:65878477-65879151	MCF-7	breast:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
9	CTCF	chr7:65878659-65879071	GM12891	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
10	CTCF	chr7:65878677-65879006	GM10266	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
11	BRCA1	chr7:65878386-65878951	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUND	chr7:65878825-65879011	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr7:65878336-65878974	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr7:65878661-65879042	GM12892	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
15	ZNF143	chr7:65878644-65879097	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr7:65878202-65879157	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:65878707-65878953	A549	lung:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831
18	USF1	chr7:65878316-65878988	ECC-1	luminal epithelium:	n/a	n/a
19	CTCF	chr7:65878665-65879031	A549	lung:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
20	CTCF	chr7:65878669-65879069	NHEK	skin:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
21	E2F6	chr7:65878198-65879018	A549	lung:	n/a	chr7:65878539-65878548 chr7:65878617-65878626 chr7:65878671-65878681 chr7:65878541-65878550
22	USF1	chr7:65878335-65878970	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr7:65878199-65879043	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr7:65877764-65879379	A549	lung:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
25	POLR2A	chr7:65878221-65878979	PANC-1	pancreas:	n/a	n/a
26	RAD21	chr7:65878532-65879236	ECC-1	luminal epithelium:	n/a	chr7:65878786-65878795 chr7:65878809-65878828
27	NRF1	chr7:65877881-65879232	SK-N-SH	brain:	n/a	chr7:65878616-65878630 chr7:65878618-65878627 chr7:65878616-65878625 chr7:65878616-65878627 chr7:65878613-65878627 chr7:65878622-65878631
28	E2F6	chr7:65878097-65879010	A549	lung:	n/a	chr7:65878539-65878548 chr7:65878617-65878626 chr7:65878671-65878681 chr7:65878541-65878550
29	TCF3	chr7:65878681-65879027	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:65878391-65878964	MCF-7	breast:	n/a	n/a
31	PML	chr7:65878518-65878986	GM12878	blood:	n/a	n/a
32	MAX	chr7:65878029-65879116	A549	lung:	n/a	n/a
33	CTCF	chr7:65878621-65879172	GM12878	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
34	CREB1	chr7:65878099-65879124	H1-hESC	embryonic stem cell:	n/a	chr7:65878538-65878551
35	KAP1	chr7:65878594-65878985	HEK293	kidney:	n/a	n/a
36	SMC3	chr7:65878649-65879043	GM12878	blood:	n/a	chr7:65878810-65878824
37	POLR2A	chr7:65878176-65879121	H1-neurons	neurons:	n/a	n/a
38	CTCF	chr7:65878639-65879063	MCF-7	breast:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
39	CTCF	chr7:65878693-65879087	GM10248	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
40	CTCF	chr7:65878644-65879082	MCF-7	breast:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
41	E2F6	chr7:65878145-65879207	H1-hESC	embryonic stem cell:	n/a	chr7:65878539-65878548 chr7:65878617-65878626 chr7:65878671-65878681 chr7:65878541-65878550
42	RAD21	chr7:65878458-65879105	A549	lung:	n/a	chr7:65878786-65878795 chr7:65878809-65878828
43	TAF1	chr7:65878415-65879042	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr7:65878321-65879020	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:65878678-65879059	GM13977	blood:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878786-65878794 chr7:65878808-65878826 chr7:65878810-65878831 chr7:65878953-65878971
46	MAX	chr7:65878029-65879174	A549	lung:	n/a	n/a
47	ZEB1	chr7:65878598-65879073	GM12878	blood:	n/a	chr7:65878889-65878896
48	CTCF	chr7:65878800-65878950	HPF	lung:	n/a	chr7:65878811-65878824 chr7:65878809-65878825 chr7:65878808-65878826 chr7:65878810-65878831
49	RAD21	chr7:65878321-65879128	SK-N-SH_RA	brain:	n/a	chr7:65878786-65878795 chr7:65878809-65878828
50	TBP	chr7:65878314-65879001	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:65878911-65878961	HL-60	blood:	n/a
2	chr7:65878911-65878961	HRE	kidney:	n/a
3	chr7:65878911-65878961	HCPEpiC	choroid plexus:	n/a
4	chr7:65878911-65878961	K562	blood:	n/a
5	chr7:65878911-65878961	AG09319	gingival:	n/a
6	chr7:65878911-65878961	HCM	heart:	n/a
7	chr7:65878911-65878961	AG04449	skin:	fetal
8	chr7:65878911-65878961	HIPEpiC	eye:	n/a
9	chr7:65878911-65878961	GM12891	blood:	n/a
10	chr7:65878911-65878961	SAEC	small airway:	n/a
11	chr7:65878911-65878961	HEK293	kidney:	embryo
12	chr7:65878911-65878961	HUVEC	blood vessel:	n/a
13	chr7:65878911-65878961	ECC-1	luminal epithelium:	n/a
14	chr7:65878911-65878961	Hepatocyte	liver:	n/a
15	chr7:65878911-65878961	MCF-7	breast:	n/a
16	chr7:65878911-65878961	NHBE	bronchial:	n/a
17	chr7:65878911-65878961	HRCEpiC	kidney:	n/a
18	chr7:65878911-65878961	A549	lung:	n/a
19	chr7:65878911-65878961	PFSK-1	brain:	n/a
20	chr7:65878911-65878961	PANC-1	pancreas:	n/a
21	chr7:65878911-65878961	HAEpiC	amniotic membrane:	n/a
22	chr7:65878911-65878961	AoSMC	blood vessel:	n/a
23	chr7:65878911-65878961	AG09309	skin:	n/a
24	chr7:65878911-65878961	U87	brain:	n/a
25	chr7:65878911-65878961	GM19239	blood:	n/a
26	chr7:65878911-65878961	NH-A	brain:	n/a
27	chr7:65878911-65878961	Jurkat	blood:	n/a
28	chr7:65878911-65878961	HCT-116	colon:	n/a
29	chr7:65878911-65878961	AG10803	skin:	n/a
30	chr7:65878911-65878961	SKMC	muscle:	n/a
31	chr7:65878911-65878961	Hela-S3	cervix:	n/a
32	chr7:65878911-65878961	IMR90	lung:	fetal
33	chr7:65878911-65878961	HepG2	liver:	n/a
34	chr7:65878911-65878961	CMK	blood:	n/a
35	chr7:65878911-65878961	PrEC	prostate:	n/a
36	chr7:65878911-65878961	HCF	heart:	n/a
37	chr7:65878911-65878961	SK-N-SH_RA	brain:	n/a
38	chr7:65878911-65878961	NB4	blood:	n/a
39	chr7:65878911-65878961	SK-N-MC	brain:	n/a
40	chr7:65878911-65878961	LNCaP	prostate:	n/a
41	chr7:65878911-65878961	NT2-D1	testis:	n/a
42	chr7:65878911-65878961	T-47D	breast:	n/a
43	chr7:65878911-65878961	RPTEC	kidney:	n/a
44	chr7:65878911-65878961	GM12878	blood:	n/a
45	chr7:65878911-65878961	ovcar-3	ovarian:	n/a
46	chr7:65878911-65878961	MCF10A-Er-Src	breast:	n/a
47	chr7:65878911-65878961	AG04450	lung:	fetal
48	chr7:65878911-65878961	HMEC	breast:	n/a
49	chr7:65878911-65878961	BE2_C	brain:	n/a
50	chr7:65878911-65878961	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65686273..65688117-chr7:65877962..65880122,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251451	TF binding region
ENSG00000251451	CpG island
ENSG00000169902	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv981507	chr7:65878773-65886496	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65861800-65880800	Weak transcription	Hela-S3	cervix
2	chr7:65874800-65883600	Weak transcription	HepG2	liver
3	chr7:65875200-65884400	Weak transcription	K562	blood
4	chr7:65876200-65888600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:65877000-65888600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:65878000-65879200	Active TSS	Brain Substantia Nigra	brain
7	chr7:65878000-65879400	Active TSS	Brain Angular Gyrus	brain
8	chr7:65878000-65879400	Active TSS	Fetal Kidney	kidney
9	chr7:65878000-65879600	Active TSS	Brain Cingulate Gyrus	brain
10	chr7:65878200-65879000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:65878200-65879000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:65878200-65879000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:65878200-65879000	Active TSS	Brain Anterior Caudate	brain
14	chr7:65878200-65879000	Active TSS	A549	lung
15	chr7:65878200-65879200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr7:65878200-65879200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr7:65878200-65879200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:65878200-65879200	Active TSS	Colonic Mucosa	Colon
19	chr7:65878200-65879200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr7:65878200-65879200	Flanking Active TSS	Fetal Brain Male	brain
21	chr7:65878200-65879200	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr7:65878200-65879200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr7:65878200-65879200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr7:65878200-65879400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:65878200-65879400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:65878400-65879000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:65878400-65879000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:65878400-65879000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:65878400-65879000	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr7:65878400-65879000	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr7:65878400-65879000	Active TSS	Colon Smooth Muscle	Colon
32	chr7:65878400-65879000	Flanking Active TSS	Esophagus	oesophagus
33	chr7:65878400-65879000	Flanking Active TSS	Fetal Lung	lung
34	chr7:65878400-65879200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:65878400-65879200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:65878400-65879200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:65878400-65879200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr7:65878400-65879200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr7:65878400-65879200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:65878400-65879200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr7:65878400-65879200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:65878400-65879200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:65878400-65879200	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr7:65878400-65879200	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr7:65878400-65879200	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr7:65878400-65879200	Flanking Active TSS	Left Ventricle	heart
47	chr7:65878400-65879200	Active TSS	Psoas Muscle	Psoas
48	chr7:65878400-65879200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr7:65878400-65879200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr7:65878400-65879200	Active TSS	Right Atrium	heart

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