Variant report

Variant	rs73505003
Chromosome Location	chr11:75275504-75275505
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	MYC	chr11:75275072-75275553	H1-hESC	embryonic stem cell:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432
2	GABPA	chr11:75275000-75275523	K562	blood:	n/a	n/a
3	CCNT2	chr11:75274949-75275559	K562	blood:	n/a	chr11:75275393-75275402
4	POLR2A	chr11:75272740-75275728	U87	brain:	n/a	n/a
5	ZNF143	chr11:75275069-75275505	H1-hESC	embryonic stem cell:	n/a	chr11:75275386-75275404
6	CHD2	chr11:75275135-75275512	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr11:75275000-75275576	H1-hESC	embryonic stem cell:	n/a	chr11:75275265-75275278
8	MAX	chr11:75275036-75275670	H1-hESC	embryonic stem cell:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432
9	POLR2A	chr11:75272700-75276641	IMR90	lung:	n/a	n/a
10	YY1	chr11:75275000-75275533	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:75272810-75275878	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:75272559-75277471	K562	blood:	n/a	n/a
13	MAZ	chr11:75272651-75275552	K562	blood:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432 chr11:75273132-75273142 chr11:75272857-75272867
14	POLR2A	chr11:75272917-75275578	ProgFib	skin:	n/a	n/a
15	POLR2A	chr11:75272859-75275533	K562	blood:	n/a	n/a
16	YY1	chr11:75275113-75275532	K562	blood:	n/a	n/a
17	MXI1	chr11:75272268-75277166	IMR90	lung:	n/a	n/a
18	MAZ	chr11:75271345-75276013	IMR90	lung:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432 chr11:75273132-75273142 chr11:75272857-75272867
19	MYC	chr11:75275060-75275601	K562	blood:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432
20	MAX	chr11:75274878-75275748	H1-hESC	embryonic stem cell:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432
21	MYC	chr11:75275009-75275615	K562	blood:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432
22	RAD21	chr11:75275008-75275536	H1-hESC	embryonic stem cell:	n/a	chr11:75275276-75275290 chr11:75275234-75275247
23	POLR2A	chr11:75272117-75277825	H1-hESC	embryonic stem cell:	n/a	n/a
24	TEAD4	chr11:75274946-75275554	K562	blood:	n/a	n/a
25	PML	chr11:75275017-75275630	K562	blood:	n/a	n/a
26	MAX	chr11:75275107-75275575	K562	blood:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432
27	POLR2A	chr11:75273093-75275597	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr11:75275440-75275590	HFF-Myc	foreskin:	n/a	n/a
29	POLR2A	chr11:75272289-75278216	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr11:75273113-75275588	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:75272861-75275631	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:75273023-75278265	K562	blood:	n/a	n/a
33	POLR2A	chr11:75272849-75275622	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr11:75275065-75275575	K562	blood:	n/a	n/a
35	RCOR1	chr11:75275333-75275525	K562	blood:	n/a	n/a
36	POLR2A	chr11:75274719-75275728	U87	brain:	n/a	n/a
37	ATF2	chr11:75274939-75275516	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:75272832-75275624	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr11:75275480-75275630	HPAF	blood vessel:	n/a	n/a
40	RAD21	chr11:75274874-75275580	IMR90	lung:	n/a	chr11:75275276-75275290 chr11:75275234-75275247
41	MAX	chr11:75275067-75275600	H1-hESC	embryonic stem cell:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432
42	TBL1XR1	chr11:75275283-75275582	K562	blood:	n/a	n/a
43	POLR2A	chr11:75274877-75275571	H1-hESC	embryonic stem cell:	n/a	n/a
44	SIN3A	chr11:75272954-75275665	H1-hESC	embryonic stem cell:	n/a	chr11:75273397-75273410 chr11:75273674-75273682 chr11:75275227-75275238
45	NR2F2	chr11:75275027-75275783	K562	blood:	n/a	n/a
46	ELK1	chr11:75275217-75275526	K562	blood:	n/a	n/a
47	YY1	chr11:75275064-75275556	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr11:75275008-75275691	K562	blood:	n/a	chr11:75275419-75275432 chr11:75275421-75275430 chr11:75275419-75275432
49	SIN3AK20	chr11:75275067-75275514	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZBTB7A	chr11:75274734-75275511	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:75110054..75112415-chr11:75273833..75275586,2	K562	blood:
2	chr11:75258322..75259433-chr11:75274625..75275593,5	K562	blood:
3	chr11:75143358..75145748-chr11:75275231..75276876,2	MCF-7	breast:
4	chr11:75109346..75112415-chr11:75273833..75276890,5	K562	blood:
5	chr11:75274903..75276889-chr11:75523862..75525400,2	MCF-7	breast:
6	chr11:75156184..75157014-chr11:75274758..75275984,4	K562	blood:
7	chr11:75274194..75276398-chr11:75306553..75308654,2	K562	blood:
8	chr11:75099765..75100418-chr11:75274785..75275688,2	K562	blood:

Variant related genes	Relation type
SERPINH1	TF binding region
ENSG00000255434	Chromatin interaction
ENSG00000149273	Chromatin interaction
ENSG00000206941	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11236457	1.00[AFR][1000 genomes]
rs11236462	1.00[AMR][1000 genomes]
rs11236463	1.00[AMR][1000 genomes]
rs12274118	1.00[AMR][1000 genomes]
rs12275382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12978	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35618597	1.00[EUR][1000 genomes]
rs58440786	1.00[AMR][1000 genomes]
rs73504526	1.00[AMR][1000 genomes]
rs73505007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75272600-75275600	Active TSS	Brain Anterior Caudate	brain
2	chr11:75272800-75275600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:75272800-75275600	Active TSS	Aorta	Aorta
4	chr11:75272800-75275800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr11:75273000-75275600	Active TSS	Brain Cingulate Gyrus	brain
6	chr11:75273000-75275600	Active TSS	Lung	lung
7	chr11:75273000-75275600	Active TSS	HSMMtube	muscle
8	chr11:75273000-75275800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:75273400-75275600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:75273800-75275600	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr11:75273800-75275600	Flanking Active TSS	Placenta	Placenta
12	chr11:75273800-75275600	Flanking Active TSS	Fetal Thymus	thymus
13	chr11:75273800-75275600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:75273800-75276200	Flanking Active TSS	NHEK	skin
15	chr11:75274000-75275600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:75274000-75275600	Flanking Active TSS	Colonic Mucosa	Colon
17	chr11:75274000-75275800	Flanking Active TSS	K562	blood
18	chr11:75274000-75277000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:75274000-75277200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
20	chr11:75274000-75277600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
21	chr11:75274000-75277800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
22	chr11:75274000-75280200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:75274200-75278200	Transcr. at gene 5' and 3'	NHLF	lung
24	chr11:75274400-75275600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:75274400-75275600	Flanking Active TSS	A549	lung
26	chr11:75274400-75276000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr11:75274400-75276000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:75274400-75278000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr11:75274600-75275600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:75274600-75275600	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr11:75274600-75275600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
32	chr11:75274600-75275600	Flanking Active TSS	Fetal Lung	lung
33	chr11:75274600-75275800	Flanking Active TSS	HMEC	breast
34	chr11:75274600-75276000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:75274600-75276200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
36	chr11:75274600-75276200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
37	chr11:75274600-75276200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
38	chr11:75274600-75276200	Enhancers	Spleen	Spleen
39	chr11:75274600-75276200	Enhancers	Dnd41	blood
40	chr11:75274600-75276400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:75274600-75277000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:75274600-75277200	Flanking Active TSS	HUVEC	blood vessel
43	chr11:75274600-75278200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:75274600-75278800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:75274600-75286400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr11:75274600-75287000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr11:75274600-75287200	Weak transcription	Primary B cells from cord blood	blood
48	chr11:75274800-75275600	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:75274800-75275600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:75274800-75275600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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