Variant report

Variant	rs7935762
Chromosome Location	chr11:107461791-107461792
allele	C/G
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	SIN3A	chr11:107460645-107463228	H1-hESC	embryonic stem cell:	n/a	chr11:107462100-107462109
2	MAX	chr11:107461676-107462194	SK-N-SH	brain:	n/a	n/a
3	E2F6	chr11:107461773-107462049	K562	blood:	n/a	chr11:107461782-107461791 chr11:107461981-107461991 chr11:107461889-107461899 chr11:107461961-107461970 chr11:107461944-107461953 chr11:107461776-107461785
4	CTCF	chr11:107461780-107461930	BJ	skin:	n/a	n/a
5	CTCF	chr11:107461780-107461930	AoAF	blood vessel:	n/a	n/a
6	POLR2A	chr11:107461723-107462459	H1-neurons	neurons:	n/a	n/a
7	BHLHE40	chr11:107461790-107461988	K562	blood:	n/a	n/a
8	CTCF	chr11:107461780-107461930	HCT-116	colon:	n/a	n/a
9	CTBP2	chr11:107461332-107462899	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:107461760-107461910	HVMF	connective:	n/a	n/a
11	CTCF	chr11:107461745-107462063	K562	blood:	n/a	n/a
12	CTCF	chr11:107461780-107461930	HEK293	kidney:	n/a	n/a
13	ZNF263	chr11:107461319-107463186	HEK293-T-REx	kidney:	n/a	chr11:107462571-107462580 chr11:107462634-107462643 chr11:107462184-107462193
14	POLR2A	chr11:107461705-107462100	HCT-116	colon:	n/a	n/a
15	CTCF	chr11:107461743-107462022	IMR90	lung:	n/a	n/a
16	CTCF	chr11:107461780-107461930	HRE	kidney:	n/a	n/a
17	MAX	chr11:107461654-107462078	K562	blood:	n/a	n/a
18	YY1	chr11:107461721-107462197	HepG2	liver:	n/a	chr11:107461980-107461994 chr11:107461978-107461989 chr11:107461780-107461794 chr11:107462089-107462103 chr11:107461981-107461995 chr11:107461947-107461958 chr11:107462088-107462097 chr11:107462034-107462043 chr11:107461947-107461956 chr11:107461978-107461992 chr11:107461944-107461953
19	MAX	chr11:107461768-107461964	K562	blood:	n/a	n/a
20	CTCF	chr11:107461760-107461910	K562	blood:	n/a	n/a
21	CHD2	chr11:107461771-107461903	HepG2	liver:	n/a	chr11:107461879-107461889
22	POLR2A	chr11:107461791-107462168	HCT-116	colon:	n/a	n/a
23	UBTF	chr11:107461728-107462144	K562	blood:	n/a	n/a
24	MAX	chr11:107461573-107462481	A549	lung:	n/a	n/a
25	MAX	chr11:107461756-107462033	MCF-7	breast:	n/a	n/a
26	CTCF	chr11:107461700-107461850	HRE	kidney:	n/a	n/a
27	SIN3AK20	chr11:107461519-107462359	PANC-1	pancreas:	n/a	n/a
28	CTCF	chr11:107461780-107461930	AG10803	skin:	n/a	n/a
29	POLR2A	chr11:107461756-107462130	HUVEC	blood vessel:	n/a	n/a
30	MAX	chr11:107461618-107462419	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr11:107461780-107461930	WERI-Rb-1	eye:	n/a	n/a
32	REST	chr11:107461728-107462025	PANC-1	pancreas:	n/a	chr11:107461892-107461905 chr11:107461771-107461781
33	CTCF	chr11:107461785-107461943	SK-N-SH_RA	brain:	n/a	n/a
34	REST	chr11:107461735-107462252	PFSK-1	brain:	n/a	chr11:107462099-107462109 chr11:107461892-107461905 chr11:107461771-107461781
35	CTCF	chr11:107461740-107461890	SAEC	small airway:	n/a	n/a
36	TEAD4	chr11:107461672-107462126	ECC-1	luminal epithelium:	n/a	n/a
37	CTCF	chr11:107461760-107461910	HPF	lung:	n/a	n/a
38	MYC	chr11:107461747-107462034	K562	blood:	n/a	n/a
39	CTCF	chr11:107461700-107461850	HEK293	kidney:	n/a	n/a
40	CTCF	chr11:107461780-107461930	GM12866	blood:	n/a	n/a
41	CTCF	chr11:107461670-107462104	K562	blood:	n/a	n/a
42	CTCF	chr11:107461790-107461954	Fibrobl	skin:	n/a	n/a
43	CTCF	chr11:107461780-107461930	SK-N-SH_RA	brain:	n/a	n/a
44	REST	chr11:107461731-107462247	ECC-1	luminal epithelium:	n/a	chr11:107462099-107462109 chr11:107461892-107461905 chr11:107461771-107461781
45	RAD21	chr11:107461788-107462067	SK-N-SH_RA	brain:	n/a	n/a
46	MAZ	chr11:107461598-107462225	IMR90	lung:	n/a	n/a
47	CTCF	chr11:107461740-107461890	HCFaa	heart:	n/a	n/a
48	CTCF	chr11:107461780-107461930	AG09319	gingival:	n/a	n/a
49	CTCF	chr11:107461780-107461930	HEEpiC	esophagus:	n/a	n/a
50	HMGN3	chr11:107461456-107462114	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:107461785-107461835	HCT-116	colon:	n/a
2	chr11:107461785-107461835	Hepatocyte	liver:	n/a
3	chr11:107461785-107461835	NT2-D1	testis:	n/a
4	chr11:107461785-107461835	AoSMC	blood vessel:	n/a
5	chr11:107461785-107461835	ProgFib	skin:	n/a
6	chr11:107461785-107461835	HRPEpiC	eye:	n/a
7	chr11:107461785-107461835	CMK	blood:	n/a
8	chr11:107461785-107461835	HIPEpiC	eye:	n/a
9	chr11:107461785-107461835	LNCaP	prostate:	n/a
10	chr11:107461785-107461835	NB4	blood:	n/a
11	chr11:107461785-107461835	BE2_C	brain:	n/a
12	chr11:107461785-107461835	U87	brain:	n/a
13	chr11:107461785-107461835	GM19239	blood:	n/a
14	chr11:107461785-107461835	HRCEpiC	kidney:	n/a
15	chr11:107461785-107461835	PANC-1	pancreas:	n/a
16	chr11:107461785-107461835	AG10803	skin:	n/a
17	chr11:107461785-107461835	H1-hESC	embryonic stem cell:	embryo
18	chr11:107461785-107461835	A549	lung:	n/a
19	chr11:107461785-107461835	T-47D	breast:	n/a
20	chr11:107461785-107461835	HepG2	liver:	n/a
21	chr11:107461785-107461835	HAEpiC	amniotic membrane:	n/a
22	chr11:107461785-107461835	GM12892	blood:	n/a
23	chr11:107461785-107461835	IMR90	lung:	fetal
24	chr11:107461785-107461835	GM12878	blood:	n/a
25	chr11:107461785-107461835	PrEC	prostate:	n/a
26	chr11:107461785-107461835	MCF10A-Er-Src	breast:	n/a
27	chr11:107461785-107461835	HRE	kidney:	n/a
28	chr11:107461785-107461835	AG09309	skin:	n/a
29	chr11:107461785-107461835	HL-60	blood:	n/a
30	chr11:107461785-107461835	GM06990	blood:	n/a
31	chr11:107461785-107461835	AG04450	lung:	fetal
32	chr11:107461785-107461835	SAEC	small airway:	n/a
33	chr11:107461785-107461835	SK-N-SH_RA	brain:	n/a
34	chr11:107461785-107461835	NHDF-neo	bronchial:	n/a
35	chr11:107461785-107461835	PFSK-1	brain:	n/a
36	chr11:107461785-107461835	HPAEpiC	pulmonary alveolar:	n/a
37	chr11:107461785-107461835	SK-N-SH	brain:	n/a
38	chr11:107461785-107461835	AG04449	skin:	fetal
39	chr11:107461785-107461835	SK-N-MC	brain:	n/a
40	chr11:107461785-107461835	MCF-7	breast:	n/a
41	chr11:107461785-107461835	NH-A	brain:	n/a
42	chr11:107461785-107461835	ECC-1	luminal epithelium:	n/a
43	chr11:107461785-107461835	AG09319	gingival:	n/a
44	chr11:107461785-107461835	ovcar-3	ovarian:	n/a
45	chr11:107461785-107461835	HCF	heart:	n/a
46	chr11:107461785-107461835	BJ	skin:	n/a
47	chr11:107461785-107461835	NHBE	bronchial:	n/a
48	chr11:107461785-107461835	HMEC	breast:	n/a
49	chr11:107461785-107461835	Jurkat	blood:	n/a
50	chr11:107461785-107461835	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107459711..107461881-chr11:107729122..107732071,2	K562	blood:

Variant related genes	Relation type
ENSG00000270969	TF binding region
ELMOD1	TF binding region
ENSG00000268467	TF binding region
ENSG00000268467	CpG island
ENSG00000270969	CpG island
ELMOD1	CpG island
ENSG00000110660	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11212301	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12271970	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12281067	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12284345	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12293198	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12577893	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1616927	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1784270	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939900	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs483468	0.86[ASN][1000 genomes]
rs549541	0.86[ASN][1000 genomes]
rs597383	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs609471	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs611085	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs652243	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs668308	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs670446	0.86[ASN][1000 genomes]
rs693605	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73555593	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73557714	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73557719	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73557724	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7933941	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7949340	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107460400-107463000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:107460400-107463000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:107460400-107465200	Active TSS	Brain Anterior Caudate	brain
4	chr11:107460600-107462200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr11:107460600-107462600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:107460600-107462800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:107460600-107462800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:107460600-107462800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:107460600-107462800	Active TSS	Psoas Muscle	Psoas
10	chr11:107460600-107463000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr11:107460600-107463000	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr11:107460600-107465000	Active TSS	Brain Angular Gyrus	brain
13	chr11:107460800-107461800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:107460800-107462000	Active TSS	Right Atrium	heart
15	chr11:107460800-107462200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:107460800-107462200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:107460800-107462800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:107460800-107462800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr11:107460800-107463000	Enhancers	Spleen	Spleen
20	chr11:107461000-107462200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr11:107461000-107462800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:107461000-107462800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
23	chr11:107461200-107461800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
26	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
27	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
28	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
29	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
30	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
32	chr11:107461200-107461800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
34	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
35	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr11:107461200-107461800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
39	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
41	chr11:107461200-107461800	Flanking Bivalent TSS/Enh	NHEK	skin
42	chr11:107461200-107461800	Flanking Active TSS	NHLF	lung
43	chr11:107461200-107462000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
44	chr11:107461200-107462000	Bivalent/Poised TSS	Thymus	Thymus
45	chr11:107461200-107462200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr11:107461200-107462200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr11:107461200-107462200	Bivalent/Poised TSS	K562	blood
48	chr11:107461200-107462600	Bivalent/Poised TSS	NHDF-Ad	bronchial
49	chr11:107461200-107462800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:107461200-107462800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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