Variant report

Variant	rs540228964
Chromosome Location	chr11:75236315-75236316
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	ZBTB7A	chr11:75235995-75237680	ECC-1	luminal epithelium:	n/a	chr11:75236136-75236145
2	HCFC1	chr11:75236214-75237809	Hela-S3	cervix:	n/a	n/a
3	HMGN3	chr11:75236080-75237375	K562	blood:	n/a	n/a
4	POLR2A	chr11:75235488-75237551	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr11:75236233-75237681	HepG2	liver:	n/a	n/a
6	CTBP2	chr11:75236150-75237162	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr11:75236090-75237238	IMR90	lung:	n/a	chr11:75236602-75236609
8	MAZ	chr11:75235215-75237619	IMR90	lung:	n/a	chr11:75237121-75237130 chr11:75236506-75236516 chr11:75237195-75237205
9	MXI1	chr11:75236176-75237565	IMR90	lung:	n/a	n/a
10	SMARCB1	chr11:75235700-75237826	Hela-S3	cervix:	n/a	chr11:75235810-75235819
11	E2F6	chr11:75236135-75236426	K562	blood:	n/a	chr11:75236135-75236144
12	MXI1	chr11:75236217-75237346	HepG2	liver:	n/a	n/a
13	ZBTB7A	chr11:75236068-75237548	K562	blood:	n/a	chr11:75236136-75236145
14	MAZ	chr11:75235918-75237381	K562	blood:	n/a	chr11:75237121-75237130 chr11:75236506-75236516 chr11:75237195-75237205
15	UBTF	chr11:75235744-75237250	K562	blood:	n/a	n/a
16	ZEB1	chr11:75236089-75236357	GM12878	blood:	n/a	chr11:75236248-75236257 chr11:75236330-75236337 chr11:75236250-75236257
17	ZBTB7A	chr11:75235690-75237760	ECC-1	luminal epithelium:	n/a	chr11:75236136-75236145 chr11:75237745-75237752
18	CCNT2	chr11:75236215-75237336	K562	blood:	n/a	chr11:75237243-75237252
19	EP300	chr11:75236212-75237501	ECC-1	luminal epithelium:	n/a	chr11:75236996-75237012 chr11:75236667-75236683
20	POLR2A	chr11:75235787-75237527	H1-neurons	neurons:	n/a	n/a
21	CTCF	chr11:75236180-75236330	GM06990	blood:	n/a	n/a
22	MXI1	chr11:75235871-75238000	SK-N-SH	brain:	n/a	n/a
23	TCF12	chr11:75236298-75237453	A549	lung:	n/a	chr11:75237217-75237224
24	RCOR1	chr11:75236208-75236394	GM12878	blood:	n/a	n/a
25	REST	chr11:75235526-75237939	H1-neurons	neurons:	n/a	chr11:75237005-75237018 chr11:75237192-75237205 chr11:75235727-75235737 chr11:75236561-75236581 chr11:75236569-75236579 chr11:75236191-75236204
26	SIN3A	chr11:75236099-75237495	H1-hESC	embryonic stem cell:	n/a	chr11:75237009-75237018 chr11:75236994-75237007 chr11:75236315-75236324 chr11:75236570-75236579 chr11:75236199-75236210
27	MAX	chr11:75234731-75237530	HepG2	liver:	n/a	chr11:75237121-75237130 chr11:75236506-75236516 chr11:75237195-75237205
28	CTCF	chr11:75236130-75237379	SK-N-SH	brain:	n/a	n/a
29	E2F6	chr11:75236187-75237305	K562	blood:	n/a	chr11:75236602-75236609

No.	Distal block	Cell Line	Cell type
1	chr11:75218923..75220446-chr11:75235371..75237646,2	K562	blood:
2	chr11:75108861..75111951-chr11:75234433..75238212,4	K562	blood:
3	chr11:75189541..75191420-chr11:75235512..75237815,2	K562	blood:
4	chr11:75045439..75047359-chr11:75234141..75236360,2	MCF-7	breast:
5	chr11:75137530..75143776-chr11:75234822..75239544,9	MCF-7	breast:
6	chr11:75109262..75112458-chr11:75235870..75238742,4	MCF-7	breast:
7	chr11:75189920..75194162-chr11:75235512..75239199,3	K562	blood:
8	chr11:75162095..75164647-chr11:75235506..75237767,3	MCF-7	breast:
9	chr11:75108861..75112568-chr11:75234338..75239079,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL35-4	chr11:75236255-75236419	NONHSAT023105

Variant related genes	Relation type
GDPD5	TF binding region
ENSG00000158555	Chromatin interaction
ENSG00000206941	Chromatin interaction
ENSG00000254460	Chromatin interaction
ENSG00000199090	Chromatin interaction
ENSG00000149243	Chromatin interaction
ENSG00000149273	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3371732	chr11:75235729-75238277	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr11:75234200-75236600	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr11:75234600-75236600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr11:75234800-75236600	Bivalent/Poised TSS	Fetal Brain Female	brain
4	chr11:75235000-75236400	Flanking Active TSS	GM12878-XiMat	blood
5	chr11:75235000-75236600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr11:75235200-75236400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
7	chr11:75235200-75236600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
8	chr11:75235200-75236600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr11:75235200-75236600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
10	chr11:75235200-75236600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:75235200-75236600	Flanking Active TSS	Hela-S3	cervix
12	chr11:75235200-75236600	Flanking Active TSS	HUVEC	blood vessel
13	chr11:75235200-75237600	Active TSS	Brain Hippocampus Middle	brain
14	chr11:75235200-75237800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr11:75235200-75237800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:75235400-75236600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:75235400-75236600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
18	chr11:75235400-75236800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr11:75235400-75236800	Bivalent Enhancer	Stomach Mucosa	stomach
20	chr11:75235400-75238000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr11:75235600-75236400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
22	chr11:75235600-75236600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr11:75235600-75236600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:75235600-75236600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
25	chr11:75235600-75236600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:75235600-75236600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:75235600-75236600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr11:75235600-75236600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr11:75235600-75236600	Bivalent/Poised TSS	HepG2	liver
30	chr11:75235600-75236600	Flanking Active TSS	NH-A	brain
31	chr11:75235600-75236800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:75235600-75236800	Bivalent/Poised TSS	Thymus	Thymus
33	chr11:75235600-75237800	Active TSS	Right Atrium	heart
34	chr11:75235600-75238000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:75235800-75236400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:75235800-75236400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
37	chr11:75235800-75236400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
38	chr11:75235800-75236600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:75235800-75236600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:75235800-75236600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:75235800-75236600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr11:75235800-75236600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:75235800-75236600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
44	chr11:75235800-75236600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:75235800-75236600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:75235800-75236600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:75235800-75236600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
48	chr11:75235800-75236600	Bivalent/Poised TSS	Fetal Kidney	kidney
49	chr11:75235800-75236600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr11:75235800-75236600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus

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