Variant report

Variant	rs2399674
Chromosome Location	chr11:93275642-93275643
allele	A/C
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	RAD21	chr11:93275592-93277010	H1-hESC	embryonic stem cell:	n/a	chr11:93276580-93276593
2	CHD2	chr11:93275326-93276086	GM12878	blood:	n/a	chr11:93275865-93275875
3	EGR1	chr11:93275625-93275946	K562	blood:	n/a	chr11:93275887-93275897 chr11:93275887-93275900 chr11:93275888-93275899 chr11:93275756-93275770 chr11:93275888-93275897 chr11:93275887-93275900 chr11:93275886-93275900 chr11:93275887-93275900 chr11:93275886-93275901 chr11:93275887-93275900
4	ATF2	chr11:93275042-93275898	GM12878	blood:	n/a	n/a
5	MTA3	chr11:93275171-93276366	GM12878	blood:	n/a	n/a
6	RFX5	chr11:93274964-93275802	Hela-S3	cervix:	n/a	n/a
7	HDAC2	chr11:93275291-93275846	K562	blood:	n/a	n/a
8	ZNF263	chr11:93275107-93275882	HEK293-T-REx	kidney:	n/a	chr11:93275650-93275671 chr11:93275867-93275876
9	CEBPB	chr11:93274989-93275773	Hela-S3	cervix:	n/a	n/a
10	TCF7L2	chr11:93275107-93276192	Hela-S3	cervix:	n/a	chr11:93275298-93275307
11	POLR2A	chr11:93275588-93277036	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr11:93275556-93275744	K562	blood:	n/a	n/a
13	ZBTB7A	chr11:93275452-93276406	ECC-1	luminal epithelium:	n/a	chr11:93276229-93276237
14	MAZ	chr11:93275539-93275882	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:93275247-93276923	Hela-S3	cervix:	n/a	n/a
16	RCOR1	chr11:93275086-93275766	GM12878	blood:	n/a	n/a
17	RCOR1	chr11:93274950-93275941	K562	blood:	n/a	n/a
18	BRCA1	chr11:93275074-93275888	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:93275007-93276907	HepG2	liver:	n/a	n/a
20	STAT3	chr11:93275059-93275667	Hela-S3	cervix:	n/a	chr11:93275297-93275306 chr11:93275298-93275307
21	JUND	chr11:93274939-93275651	Hela-S3	cervix:	n/a	chr11:93275296-93275307 chr11:93275294-93275305 chr11:93275298-93275307 chr11:93275299-93275306 chr11:93275297-93275307 chr11:93275298-93275306
22	MAX	chr11:93274940-93277201	NB4	blood:	n/a	chr11:93276658-93276668 chr11:93275298-93275307 chr11:93275297-93275306 chr11:93275890-93275900
23	POLR2A	chr11:93275230-93275912	Hela-S3	cervix:	n/a	n/a
24	RCOR1	chr11:93275040-93276280	K562	blood:	n/a	n/a
25	FOS	chr11:93275008-93275665	Hela-S3	cervix:	n/a	chr11:93275294-93275305 chr11:93275298-93275307 chr11:93275299-93275306 chr11:93275297-93275307 chr11:93275296-93275307 chr11:93275298-93275306
26	IRF4	chr11:93275374-93275877	GM12878	blood:	n/a	n/a
27	CTCF	chr11:93275640-93275790	AG04449	skin:	n/a	n/a
28	EGR1	chr11:93275502-93275916	H1-hESC	embryonic stem cell:	n/a	chr11:93275532-93275547 chr11:93275887-93275897 chr11:93275887-93275900 chr11:93275888-93275899 chr11:93275756-93275770 chr11:93275888-93275897 chr11:93275887-93275900 chr11:93275886-93275900 chr11:93275887-93275900 chr11:93275886-93275901 chr11:93275887-93275900
29	FOXM1	chr11:93275037-93275984	GM12878	blood:	n/a	n/a
30	RFX5	chr11:93275564-93275764	HepG2	liver:	n/a	n/a
31	ZNF143	chr11:93275490-93275964	H1-hESC	embryonic stem cell:	n/a	chr11:93275901-93275919 chr11:93275703-93275721 chr11:93275492-93275511
32	EP300	chr11:93274968-93275716	K562	blood:	n/a	chr11:93275298-93275307 chr11:93275274-93275288 chr11:93275297-93275306
33	POLR2A	chr11:93275283-93277000	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr11:93275356-93276018	Raji	blood:	n/a	n/a
35	CHD2	chr11:93275134-93277071	Hela-S3	cervix:	n/a	chr11:93276653-93276663 chr11:93275865-93275875
36	POLR2A	chr11:93275180-93275912	GM12878	blood:	n/a	n/a
37	FOS	chr11:93274912-93275693	HUVEC	blood vessel:	n/a	chr11:93275294-93275305 chr11:93275298-93275307 chr11:93275299-93275306 chr11:93275297-93275307 chr11:93275296-93275307 chr11:93275298-93275306
38	KAP1	chr11:93275063-93275695	HEK293	kidney:	n/a	chr11:93275299-93275308
39	RAD21	chr11:93274961-93275780	Hela-S3	cervix:	n/a	n/a
40	MAX	chr11:93275015-93275777	Hela-S3	cervix:	n/a	chr11:93275298-93275307 chr11:93275297-93275306
41	ZBTB7A	chr11:93275537-93276247	ECC-1	luminal epithelium:	n/a	chr11:93276229-93276237
42	STAT3	chr11:93275600-93275647	MCF10A-Er-Src	breast:	n/a	n/a
43	TBL1XR1	chr11:93274996-93275650	K562	blood:	n/a	n/a
44	CTBP2	chr11:93275322-93276282	H1-hESC	embryonic stem cell:	n/a	n/a
45	TFAP2C	chr11:93275355-93277123	Hela-S3	cervix:	n/a	n/a
46	EP300	chr11:93275240-93275867	GM12878	blood:	n/a	chr11:93275298-93275307 chr11:93275704-93275720 chr11:93275274-93275288 chr11:93275297-93275306
47	TBP	chr11:93275368-93275775	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:93275244-93275941	GM12878	blood:	n/a	n/a
49	RUNX3	chr11:93275205-93276147	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:93275295-93275805	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93274349..93277500-chr11:93472599..93475364,3	K562	blood:
2	chr11:93239503..93241482-chr11:93273372..93276296,2	K562	blood:
3	chr11:93273632..93276207-chr11:93516954..93519497,2	K562	blood:

Variant related genes	Relation type
SMCO4	TF binding region
ENSG00000042429	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000182919	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93269800-93275800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:93274800-93275800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:93275000-93275800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:93275000-93275800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:93275000-93275800	Flanking Active TSS	GM12878-XiMat	blood
6	chr11:93275000-93275800	Flanking Active TSS	Hela-S3	cervix
7	chr11:93275000-93277200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:93275200-93275800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
9	chr11:93275200-93275800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:93275200-93275800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:93275200-93275800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:93275200-93275800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr11:93275200-93275800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr11:93275200-93275800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr11:93275200-93275800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr11:93275200-93275800	Flanking Active TSS	Fetal Brain Female	brain
17	chr11:93275200-93275800	Flanking Active TSS	Fetal Intestine Large	intestine
18	chr11:93275200-93275800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr11:93275200-93275800	Flanking Active TSS	Stomach Mucosa	stomach
20	chr11:93275200-93275800	Flanking Active TSS	HUVEC	blood vessel
21	chr11:93275200-93275800	Flanking Active TSS	K562	blood
22	chr11:93275200-93275800	Flanking Active TSS	NHLF	lung
23	chr11:93275200-93276000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:93275200-93276000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:93275200-93276000	Flanking Active TSS	Dnd41	blood
26	chr11:93275200-93276200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:93275200-93276600	Active TSS	Brain Hippocampus Middle	brain
28	chr11:93275200-93276600	Active TSS	Right Atrium	heart
29	chr11:93275200-93276800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:93275200-93276800	Active TSS	Brain Angular Gyrus	brain
31	chr11:93275200-93276800	Active TSS	Rectal Smooth Muscle	rectum
32	chr11:93275200-93277000	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr11:93275200-93277000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:93275200-93277200	Active TSS	Right Ventricle	heart
35	chr11:93275400-93275800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:93275400-93275800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:93275400-93275800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:93275400-93275800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr11:93275400-93275800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:93275400-93275800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:93275400-93275800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:93275400-93275800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr11:93275400-93275800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr11:93275400-93275800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr11:93275400-93275800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:93275400-93275800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr11:93275400-93275800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr11:93275400-93275800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:93275400-93275800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:93275400-93275800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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