Variant report

Variant	rs61735304
Chromosome Location	chr11:86666031-86666032
allele	A/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	POLR2A	chr11:86665827-86667368	K562	blood:	n/a	n/a
2	MAX	chr11:86665614-86667424	A549	lung:	n/a	chr11:86666540-86666550
3	E2F6	chr11:86665535-86666625	A549	lung:	n/a	chr11:86666197-86666207 chr11:86666371-86666381 chr11:86666370-86666380 chr11:86666194-86666204 chr11:86666542-86666551
4	CTCF	chr11:86665980-86666130	SK-N-SH_RA	brain:	n/a	n/a
5	CHD2	chr11:86665530-86667684	Hela-S3	cervix:	n/a	chr11:86667070-86667080 chr11:86666535-86666545
6	YY1	chr11:86665931-86666734	HepG2	liver:	n/a	chr11:86666193-86666207 chr11:86666542-86666551 chr11:86666202-86666216 chr11:86666255-86666266 chr11:86666370-86666384
7	GTF2F1	chr11:86665856-86666444	H1-hESC	embryonic stem cell:	n/a	n/a
8	TEAD4	chr11:86665763-86666155	H1-hESC	embryonic stem cell:	n/a	n/a
9	TCF12	chr11:86665476-86666550	A549	lung:	n/a	chr11:86665500-86665507
10	USF1	chr11:86665791-86666130	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:86665375-86667540	HUVEC	blood vessel:	n/a	n/a
12	UBTF	chr11:86666019-86667251	K562	blood:	n/a	n/a
13	POLR2A	chr11:86665993-86667248	ProgFib	skin:	n/a	n/a
14	POLR2A	chr11:86665958-86667766	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:86665980-86666547	PANC-1	pancreas:	n/a	n/a
16	MXI1	chr11:86665487-86667576	IMR90	lung:	n/a	n/a
17	MAX	chr11:86665486-86666566	H1-hESC	embryonic stem cell:	n/a	chr11:86666540-86666550
18	MAZ	chr11:86665789-86668465	IMR90	lung:	n/a	chr11:86666540-86666550 chr11:86668063-86668072 chr11:86667471-86667480
19	POLR2A	chr11:86665609-86667546	HUVEC	blood vessel:	n/a	n/a
20	ZBTB7A	chr11:86665691-86666452	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr11:86665922-86667660	K562	blood:	n/a	chr11:86666540-86666550 chr11:86667471-86667480
22	E2F6	chr11:86665693-86667700	K562	blood:	n/a	chr11:86667260-86667269 chr11:86666197-86666207 chr11:86667069-86667081 chr11:86666371-86666381 chr11:86666370-86666380 chr11:86666194-86666204 chr11:86667072-86667081 chr11:86667316-86667328 chr11:86666542-86666551
23	POLR2A	chr11:86665981-86666506	SK-N-MC	brain:	n/a	n/a
24	MAX	chr11:86665768-86667626	NB4	blood:	n/a	chr11:86666540-86666550 chr11:86667471-86667480
25	SIN3AK20	chr11:86665840-86667346	PANC-1	pancreas:	n/a	n/a
26	PBX3	chr11:86666031-86666780	SK-N-SH	brain:	n/a	chr11:86666491-86666511
27	POLR2A	chr11:86665830-86667777	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:86665217-86667583	HUVEC	blood vessel:	n/a	n/a
29	E2F6	chr11:86665702-86666818	K562	blood:	n/a	chr11:86666197-86666207 chr11:86666371-86666381 chr11:86666370-86666380 chr11:86666194-86666204 chr11:86666542-86666551
30	MAX	chr11:86665775-86666553	A549	lung:	n/a	chr11:86666540-86666550
31	MAX	chr11:86665677-86667238	MCF-7	breast:	n/a	chr11:86666540-86666550
32	USF2	chr11:86665728-86666285	H1-hESC	embryonic stem cell:	n/a	chr11:86666193-86666209 chr11:86666150-86666166
33	POLR2A	chr11:86665267-86667776	HepG2	liver:	n/a	n/a
34	POLR2A	chr11:86665858-86666556	H1-neurons	neurons:	n/a	n/a
35	MAX	chr11:86665625-86667834	ECC-1	luminal epithelium:	n/a	chr11:86666540-86666550 chr11:86667471-86667480
36	MAX	chr11:86665577-86666579	H1-hESC	embryonic stem cell:	n/a	chr11:86666540-86666550
37	MAX	chr11:86665787-86667763	Hela-S3	cervix:	n/a	chr11:86666540-86666550 chr11:86667471-86667480
38	CHD2	chr11:86665785-86666109	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:86665206-86667957	K562	blood:	n/a	n/a
40	MYC	chr11:86665981-86667863	K562	blood:	n/a	chr11:86666540-86666550 chr11:86667471-86667480
41	MAX	chr11:86665699-86666616	SK-N-SH	brain:	n/a	chr11:86666540-86666550
42	E2F6	chr11:86665740-86666578	A549	lung:	n/a	chr11:86666197-86666207 chr11:86666371-86666381 chr11:86666370-86666380 chr11:86666194-86666204 chr11:86666542-86666551
43	MYC	chr11:86665839-86666078	NB4	blood:	n/a	n/a
44	MAX	chr11:86665663-86666579	K562	blood:	n/a	chr11:86666540-86666550
45	RCOR1	chr11:86666006-86667943	Hela-S3	cervix:	n/a	n/a
46	GTF2F1	chr11:86665970-86666068	K562	blood:	n/a	n/a
47	CTCF	chr11:86665372-86667701	A549	lung:	n/a	chr11:86666364-86666377 chr11:86667576-86667584 chr11:86665814-86665823 chr11:86666248-86666261
48	TAF1	chr11:86666015-86666541	K562	blood:	n/a	n/a
49	POLR2A	chr11:86665903-86667532	H1-hESC	embryonic stem cell:	n/a	n/a
50	TCF12	chr11:86665798-86666091	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:86666000-86666050	AG04449	skin:	fetal
2	chr11:86666000-86666050	HCF	heart:	n/a
3	chr11:86666000-86666050	Jurkat	blood:	n/a
4	chr11:86666000-86666050	HCPEpiC	choroid plexus:	n/a
5	chr11:86666000-86666050	H1-hESC	embryonic stem cell:	embryo
6	chr11:86666000-86666050	AG09309	skin:	n/a
7	chr11:86666000-86666050	HEK293	kidney:	embryo
8	chr11:86666000-86666050	SAEC	small airway:	n/a
9	chr11:86666000-86666050	NB4	blood:	n/a
10	chr11:86666000-86666050	BE2_C	brain:	n/a
11	chr11:86666000-86666050	HRPEpiC	eye:	n/a
12	chr11:86666000-86666050	AG04450	lung:	fetal
13	chr11:86666000-86666050	HNPCEpiC	eye:	n/a
14	chr11:86666000-86666050	U87	brain:	n/a
15	chr11:86666000-86666050	HEEpiC	esophagus:	n/a
16	chr11:86666000-86666050	T-47D	breast:	n/a
17	chr11:86666000-86666050	HepG2	liver:	n/a
18	chr11:86666000-86666050	GM12892	blood:	n/a
19	chr11:86666000-86666050	A549	lung:	n/a
20	chr11:86666000-86666050	SK-N-SH	brain:	n/a
21	chr11:86666000-86666050	RPTEC	kidney:	n/a
22	chr11:86666000-86666050	GM12878	blood:	n/a
23	chr11:86666000-86666050	ovcar-3	ovarian:	n/a
24	chr11:86666000-86666050	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:86666000-86666050	HRCEpiC	kidney:	n/a
26	chr11:86666000-86666050	GM19239	blood:	n/a
27	chr11:86666000-86666050	NHDF-neo	bronchial:	n/a
28	chr11:86666000-86666050	GM06990	blood:	n/a
29	chr11:86666000-86666050	Hepatocyte	liver:	n/a
30	chr11:86666000-86666050	HCT-116	colon:	n/a
31	chr11:86666000-86666050	IMR90	lung:	fetal
32	chr11:86666000-86666050	PFSK-1	brain:	n/a
33	chr11:86666000-86666050	CMK	blood:	n/a
34	chr11:86666000-86666050	HAEpiC	amniotic membrane:	n/a
35	chr11:86666000-86666050	MCF-7	breast:	n/a
36	chr11:86666000-86666050	HIPEpiC	eye:	n/a
37	chr11:86666000-86666050	AG10803	skin:	n/a
38	chr11:86666000-86666050	GM12891	blood:	n/a
39	chr11:86666000-86666050	SK-N-MC	brain:	n/a
40	chr11:86666000-86666050	ECC-1	luminal epithelium:	n/a
41	chr11:86666000-86666050	BJ	skin:	n/a
42	chr11:86666000-86666050	Hela-S3	cervix:	n/a
43	chr11:86666000-86666050	HUVEC	blood vessel:	n/a
44	chr11:86666000-86666050	SKMC	muscle:	n/a
45	chr11:86666000-86666050	K562	blood:	n/a
46	chr11:86666000-86666050	HMEC	breast:	n/a
47	chr11:86666000-86666050	HL-60	blood:	n/a
48	chr11:86666000-86666050	HRE	kidney:	n/a
49	chr11:86666000-86666050	LNCaP	prostate:	n/a
50	chr11:86666000-86666050	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:86664827..86670422-chr11:86747541..86750601,9	MCF-7	breast:
2	chr11:86648192..86652740-chr11:86665562..86667953,4	K562	blood:
3	chr11:86651265..86655109-chr11:86664872..86666696,3	MCF-7	breast:
4	chr11:86649897..86655027-chr11:86664913..86668349,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246523	TF binding region
ENSG00000246523	CpG island
ENSG00000150687	Chromatin interaction
ENSG00000166575	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17149639	0.90[AMR][1000 genomes]
rs17758742	0.81[AMR][1000 genomes]
rs4943965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944649	1.00[AMR][1000 genomes]
rs57561938	0.81[AMR][1000 genomes]
rs61735303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7106960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7121504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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	29 gene(s)	inside rSNPs	diseases
4	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv3325080	chr11:86664929-86667677	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3331243	chr11:86665354-86668252	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86663200-86667800	Active TSS	Right Ventricle	heart
2	chr11:86663400-86667400	Active TSS	Fetal Brain Female	brain
3	chr11:86663400-86667400	Active TSS	Left Ventricle	heart
4	chr11:86663400-86667600	Active TSS	Right Atrium	heart
5	chr11:86663400-86668000	Active TSS	Fetal Kidney	kidney
6	chr11:86663600-86667400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:86663600-86667400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:86663600-86667600	Active TSS	Psoas Muscle	Psoas
9	chr11:86663600-86667600	Active TSS	Rectal Smooth Muscle	rectum
10	chr11:86663600-86667800	Active TSS	Colon Smooth Muscle	Colon
11	chr11:86663600-86667800	Active TSS	Ovary	ovary
12	chr11:86663600-86668000	Active TSS	Aorta	Aorta
13	chr11:86663800-86667400	Active TSS	Fetal Stomach	stomach
14	chr11:86664000-86666200	Flanking Active TSS	Liver	Liver
15	chr11:86664000-86667800	Active TSS	Brain Anterior Caudate	brain
16	chr11:86664000-86667800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:86664200-86666800	Active TSS	HUVEC	blood vessel
18	chr11:86664200-86667600	Active TSS	Brain Substantia Nigra	brain
19	chr11:86664200-86667600	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr11:86664200-86667800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr11:86664200-86667800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr11:86664400-86667400	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr11:86664400-86667800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:86664800-86666200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr11:86664800-86667400	Active TSS	Esophagus	oesophagus
26	chr11:86665000-86666200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr11:86665200-86666200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:86665200-86666200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:86665200-86667400	Active TSS	Brain Angular Gyrus	brain
30	chr11:86665200-86667600	Active TSS	Gastric	stomach
31	chr11:86665200-86667800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:86665400-86666200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:86665400-86666200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:86665400-86666200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:86665400-86666200	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:86665400-86666200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr11:86665400-86666200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:86665400-86666200	Flanking Active TSS	Pancreas	Pancrea
39	chr11:86665400-86666400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:86665400-86666400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:86665400-86667200	Active TSS	Spleen	Spleen
42	chr11:86665400-86667400	Active TSS	Small Intestine	intestine
43	chr11:86665400-86667600	Active TSS	HSMMtube	muscle
44	chr11:86665400-86667800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr11:86665600-86666200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr11:86665600-86666200	Flanking Active TSS	HMEC	breast
47	chr11:86665600-86666400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:86665600-86666400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr11:86665600-86666800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
50	chr11:86665600-86667200	Active TSS	HepG2	liver

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