Variant report

Variant	rs527977403
Chromosome Location	chr11:46402308-46402309
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	TFAP2C	chr11:46401934-46402703	Hela-S3	cervix:	n/a	chr11:46402409-46402424
2	SIN3AK20	chr11:46401880-46403020	PANC-1	pancreas:	n/a	n/a
3	MYC	chr11:46402291-46402314	K562	blood:	n/a	n/a
4	MAX	chr11:46401974-46403135	HepG2	liver:	n/a	n/a
5	CREB1	chr11:46401916-46403009	HepG2	liver:	n/a	n/a
6	TCF12	chr11:46402095-46402765	A549	lung:	n/a	n/a
7	IRF1	chr11:46402014-46402707	K562	blood:	n/a	chr11:46402333-46402347 chr11:46402335-46402348 chr11:46402331-46402352 chr11:46402334-46402348 chr11:46402337-46402351 chr11:46402335-46402348 chr11:46402347-46402361 chr11:46402337-46402347 chr11:46402335-46402348 chr11:46402552-46402559 chr11:46402337-46402348
8	MAZ	chr11:46401885-46404425	K562	blood:	n/a	chr11:46403190-46403200 chr11:46403152-46403162
9	ATF2	chr11:46401888-46402790	H1-hESC	embryonic stem cell:	n/a	n/a
10	STAT3	chr11:46402219-46402427	MCF10A-Er-Src	breast:	n/a	chr11:46402337-46402348 chr11:46402350-46402362
11	POLR2A	chr11:46399537-46406317	K562	blood:	n/a	n/a
12	EGR1	chr11:46401921-46402583	ECC-1	luminal epithelium:	n/a	chr11:46402121-46402131 chr11:46402140-46402153 chr11:46402357-46402367 chr11:46402119-46402132 chr11:46402357-46402366 chr11:46402354-46402367 chr11:46402120-46402131
13	REST	chr11:46402231-46402626	PFSK-1	brain:	n/a	n/a
14	TCF7L2	chr11:46402066-46405045	HCT-116	colon:	n/a	n/a
15	PBX3	chr11:46401903-46402932	SK-N-SH	brain:	n/a	chr11:46402227-46402247
16	TBL1XR1	chr11:46402004-46402727	K562	blood:	n/a	n/a
17	CREB1	chr11:46401925-46402542	GM12878	blood:	n/a	n/a
18	EGR1	chr11:46401941-46402570	ECC-1	luminal epithelium:	n/a	chr11:46402121-46402131 chr11:46402140-46402153 chr11:46402357-46402367 chr11:46402119-46402132 chr11:46402357-46402366 chr11:46402354-46402367 chr11:46402120-46402131
19	MAZ	chr11:46401942-46402873	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:46402094-46402532	Hela-S3	cervix:	n/a	n/a
21	FOXA2	chr11:46401903-46402356	A549	lung:	n/a	n/a
22	SIN3AK20	chr11:46401894-46402456	PFSK-1	brain:	n/a	n/a
23	TCF12	chr11:46401934-46403066	ECC-1	luminal epithelium:	n/a	n/a
24	SP1	chr11:46402279-46402580	GM12878	blood:	n/a	chr11:46402352-46402364 chr11:46402349-46402358 chr11:46402408-46402418 chr11:46402347-46402359 chr11:46402285-46402296 chr11:46402354-46402363 chr11:46402407-46402419 chr11:46402347-46402359 chr11:46402408-46402417 chr11:46402409-46402418 chr11:46402353-46402362 chr11:46402347-46402358 chr11:46402407-46402419 chr11:46402352-46402364 chr11:46402408-46402422 chr11:46402348-46402358
25	RUNX3	chr11:46402124-46402685	GM12878	blood:	n/a	n/a
26	NFIC	chr11:46402029-46402645	HepG2	liver:	n/a	n/a
27	MYC	chr11:46402035-46403912	K562	blood:	n/a	chr11:46403190-46403200 chr11:46403152-46403162
28	REST	chr11:46402025-46402552	K562	blood:	n/a	chr11:46402137-46402155 chr11:46402191-46402199 chr11:46402180-46402187
29	MAX	chr11:46402261-46402513	Hela-S3	cervix:	n/a	n/a
30	ZBTB7A	chr11:46401904-46404027	ECC-1	luminal epithelium:	n/a	chr11:46402740-46402749
31	CHD2	chr11:46402024-46402856	GM12878	blood:	n/a	n/a
32	TAF1	chr11:46401924-46403482	K562	blood:	n/a	n/a
33	SIN3A	chr11:46401828-46404505	H1-hESC	embryonic stem cell:	n/a	chr11:46402190-46402198
34	MAX	chr11:46401961-46404340	MCF-7	breast:	n/a	chr11:46403190-46403200 chr11:46403152-46403162
35	EGR1	chr11:46401926-46402857	HCT-116	colon:	n/a	chr11:46402741-46402751 chr11:46402121-46402131 chr11:46402140-46402153 chr11:46402740-46402753 chr11:46402357-46402367 chr11:46402119-46402132 chr11:46402357-46402366 chr11:46402354-46402367 chr11:46402120-46402131
36	RCOR1	chr11:46401923-46402626	K562	blood:	n/a	n/a
37	FOXM1	chr11:46402216-46402539	GM12878	blood:	n/a	n/a
38	RXRA	chr11:46401975-46402780	SK-N-SH	brain:	n/a	chr11:46402241-46402257 chr11:46402337-46402346
39	EGR1	chr11:46401948-46402707	HCT-116	colon:	n/a	chr11:46402121-46402131 chr11:46402140-46402153 chr11:46402357-46402367 chr11:46402119-46402132 chr11:46402357-46402366 chr11:46402354-46402367 chr11:46402120-46402131
40	PBX3	chr11:46401931-46402830	SK-N-SH	brain:	n/a	chr11:46402227-46402247
41	PML	chr11:46402024-46402817	GM12878	blood:	n/a	n/a
42	MTA3	chr11:46402270-46402760	GM12878	blood:	n/a	n/a
43	EP300	chr11:46401960-46402406	K562	blood:	n/a	n/a
44	UBTF	chr11:46402056-46404061	K562	blood:	n/a	n/a
45	ETS1	chr11:46401914-46402324	K562	blood:	n/a	chr11:46402204-46402217
46	POLR2A	chr11:46401839-46402915	HCT-116	colon:	n/a	n/a
47	JUND	chr11:46401904-46402457	K562	blood:	n/a	chr11:46402072-46402083
48	CREB1	chr11:46401903-46402573	K562	blood:	n/a	n/a
49	TCF3	chr11:46402243-46402540	GM12878	blood:	n/a	n/a
50	ZKSCAN1	chr11:46402279-46402426	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46401836..46403864-chr11:46637074..46639458,2	K562	blood:
2	chr11:46368921..46370887-chr11:46401609..46403776,2	MCF-7	breast:
3	chr11:46401780..46403457-chr11:47290200..47292891,2	MCF-7	breast:
4	chr11:46382914..46384504-chr11:46401158..46403727,3	MCF-7	breast:
5	chr11:46368689..46375486-chr11:46400770..46406098,12	K562	blood:
6	chr11:46387947..46390422-chr11:46401426..46404815,4	MCF-7	breast:
7	chr11:46393877..46398500-chr11:46401419..46405642,6	MCF-7	breast:
8	chr11:46256874..46260563-chr11:46399060..46405748,9	K562	blood:
9	chr11:46141914..46143962-chr11:46401995..46404790,2	K562	blood:
10	chr11:46401089..46404766-chr11:46549861..46553085,3	K562	blood:
11	chr11:46391583..46394850-chr11:46399666..46402869,4	MCF-7	breast:
12	chr11:46399063..46400618-chr11:46400770..46402809,2	MCF-7	breast:

Variant related genes	Relation type
MDK	TF binding region
ENSG00000110514	Chromatin interaction
ENSG00000135365	Chromatin interaction
ENSG00000175224	Chromatin interaction
ENSG00000264102	Chromatin interaction
ENSG00000180423	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000110497	Chromatin interaction
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
8	nsv897318	chr11:46388220-46417815	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv897319	chr11:46396479-46417815	Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv554203	chr11:46399538-46406497	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv309	chr11:46399678-46440503	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv897320	chr11:46399901-46417815	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv3359255	chr11:46401901-46404749	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
14	esv3407445	chr11:46402151-46404424	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 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	chr11:46400600-46402800	Enhancers	Fetal Heart	heart
2	chr11:46400800-46404400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:46401000-46402400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:46401200-46404200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:46401200-46404200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:46401200-46404400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:46401200-46404400	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr11:46401400-46402400	Active TSS	HepG2	liver
9	chr11:46401400-46404000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:46401400-46404200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:46401400-46404200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr11:46401400-46404400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:46401400-46404400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:46401400-46404400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:46401400-46404400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:46401600-46402400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:46401600-46402400	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr11:46401600-46404000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:46401600-46404200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:46401600-46404200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:46401600-46404200	Active TSS	Fetal Intestine Large	intestine
22	chr11:46401800-46402400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr11:46401800-46402400	Active TSS	Stomach Smooth Muscle	stomach
24	chr11:46401800-46402400	Bivalent Enhancer	Dnd41	blood
25	chr11:46401800-46402800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:46401800-46402800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr11:46401800-46403000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr11:46401800-46403400	Active TSS	Primary B cells from peripheral blood	blood
29	chr11:46401800-46403600	Active TSS	Rectal Smooth Muscle	rectum
30	chr11:46401800-46403800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr11:46401800-46403800	Active TSS	K562	blood
32	chr11:46401800-46404000	Active TSS	Osteobl	bone
33	chr11:46402000-46402400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:46402000-46402400	Active TSS	Primary hematopoietic stem cells	blood
35	chr11:46402000-46402400	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr11:46402000-46402400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:46402000-46402400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:46402000-46402400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr11:46402000-46402400	Active TSS	Liver	Liver
40	chr11:46402000-46402400	Enhancers	Fetal Brain Male	brain
41	chr11:46402000-46402400	Active TSS	Psoas Muscle	Psoas
42	chr11:46402000-46402400	Active TSS	Right Atrium	heart
43	chr11:46402000-46402400	Active TSS	Hela-S3	cervix
44	chr11:46402000-46402600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:46402000-46402600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr11:46402000-46402600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:46402000-46402800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:46402000-46402800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:46402000-46402800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:46402000-46402800	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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