Variant report

Variant	rs11946336
Chromosome Location	chr4:7069099-7069100
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	TAF1	chr4:7069034-7070363	HepG2	liver:	n/a	n/a
2	MAX	chr4:7068899-7070445	A549	lung:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
3	CBX3	chr4:7068993-7069501	K562	blood:	n/a	n/a
4	POLR2A	chr4:7068889-7069950	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:7069040-7070482	U87	brain:	n/a	n/a
6	MAX	chr4:7068991-7070187	A549	lung:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
7	FOS	chr4:7069002-7069396	HUVEC	blood vessel:	n/a	chr4:7069225-7069236
8	RUNX3	chr4:7069011-7070552	GM12878	blood:	n/a	n/a
9	USF2	chr4:7069085-7070137	GM12878	blood:	n/a	chr4:7069443-7069459
10	USF2	chr4:7069047-7069540	H1-hESC	embryonic stem cell:	n/a	chr4:7069443-7069459
11	POLR2A	chr4:7069094-7069506	Hela-S3	cervix:	n/a	n/a
12	MAX	chr4:7068828-7070381	Hela-S3	cervix:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
13	POLR2A	chr4:7069051-7070324	HepG2	liver:	n/a	n/a
14	SIN3AK20	chr4:7068932-7070451	K562	blood:	n/a	n/a
15	MAX	chr4:7068940-7070285	MCF-7	breast:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
16	RUNX3	chr4:7068912-7069626	GM12878	blood:	n/a	n/a
17	ELF1	chr4:7069011-7070512	GM12878	blood:	n/a	chr4:7069866-7069877 chr4:7069864-7069877
18	UBTF	chr4:7069041-7071215	K562	blood:	n/a	n/a
19	RCOR1	chr4:7068979-7070930	K562	blood:	n/a	n/a
20	POLR2A	chr4:7068354-7070270	HepG2	liver:	n/a	n/a
21	POLR2A	chr4:7069025-7069456	Hela-S3	cervix:	n/a	n/a
22	MAX	chr4:7068942-7070946	K562	blood:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7070769-7070776 chr4:7069413-7069422 chr4:7070769-7070779 chr4:7069407-7069422 chr4:7069411-7069420 chr4:7070769-7070778
23	POLR2A	chr4:7068949-7070486	GM12892	blood:	n/a	n/a
24	MXI1	chr4:7068858-7070346	Hela-S3	cervix:	n/a	n/a
25	MAX	chr4:7069081-7070129	H1-hESC	embryonic stem cell:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
26	MAX	chr4:7068783-7071023	A549	lung:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7070769-7070776 chr4:7069413-7069422 chr4:7070769-7070779 chr4:7069407-7069422 chr4:7069411-7069420 chr4:7070769-7070778
27	MYC	chr4:7069030-7069461	HepG2	liver:	n/a	chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
28	POLR2A	chr4:7069071-7070354	GM12878	blood:	n/a	n/a
29	STAT5A	chr4:7069037-7069397	GM12878	blood:	n/a	n/a
30	POLR2A	chr4:7068805-7070382	MCF10A-Er-Src	breast:	n/a	n/a
31	MXI1	chr4:7068607-7070702	GM12878	blood:	n/a	chr4:7068711-7068720
32	MAX	chr4:7068947-7070401	ECC-1	luminal epithelium:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
33	CREB1	chr4:7069067-7070543	HepG2	liver:	n/a	n/a
34	MAX	chr4:7068832-7070722	GM12878	blood:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
35	MYC	chr4:7068929-7070284	MCF10A-Er-Src	breast:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
36	POLR2A	chr4:7068894-7070896	K562	blood:	n/a	n/a
37	MAX	chr4:7069064-7070134	HUVEC	blood vessel:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
38	UBTF	chr4:7069053-7070938	K562	blood:	n/a	n/a
39	MAX	chr4:7068981-7070519	SK-N-SH	brain:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
40	MAZ	chr4:7068906-7071114	IMR90	lung:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7070769-7070776 chr4:7069413-7069422 chr4:7070769-7070779 chr4:7069407-7069422 chr4:7069411-7069420 chr4:7070769-7070778
41	POLR2A	chr4:7068885-7070463	GM12892	blood:	n/a	n/a
42	MAX	chr4:7068408-7070419	NB4	blood:	n/a	chr4:7069938-7069948 chr4:7068710-7068720 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7069413-7069422 chr4:7069407-7069422 chr4:7069411-7069420
43	POLR2A	chr4:7068995-7070538	SK-N-MC	brain:	n/a	n/a
44	MAX	chr4:7068725-7071074	K562	blood:	n/a	chr4:7069938-7069948 chr4:7069412-7069419 chr4:7069411-7069421 chr4:7070769-7070776 chr4:7069413-7069422 chr4:7070769-7070779 chr4:7069407-7069422 chr4:7069411-7069420 chr4:7070769-7070778
45	HEY1	chr4:7069013-7069969	K562	blood:	n/a	chr4:7069532-7069547
46	CCNT2	chr4:7069041-7070963	K562	blood:	n/a	chr4:7070365-7070374 chr4:7069926-7069935
47	ELF1	chr4:7068926-7070171	GM12878	blood:	n/a	chr4:7069866-7069877 chr4:7069864-7069877
48	CEBPB	chr4:7069039-7069359	Hela-S3	cervix:	n/a	n/a
49	E2F4	chr4:7069083-7070507	K562	blood:	n/a	chr4:7070387-7070397
50	BHLHE40	chr4:7069029-7070425	K562	blood:	n/a	chr4:7069443-7069459

No.	Distal block	Cell Line	Cell type
1	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
2	chr4:6674717..6677154-chr4:7068478..7072724,3	K562	blood:
3	chr4:6781737..6784394-chr4:7068714..7070665,2	MCF-7	breast:
4	chr4:6910032..6912660-chr4:7068559..7071678,6	MCF-7	breast:
5	chr4:6997053..6999861-chr4:7067007..7069346,2	K562	blood:
6	chr4:6987263..6989293-chr4:7068529..7070966,2	MCF-7	breast:
7	chr4:7058331..7067210-chr4:7067664..7073138,15	MCF-7	breast:
8	chr4:6576606..6578817-chr4:7068578..7071548,2	K562	blood:
9	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:
10	chr4:6908374..6913659-chr4:7068343..7071782,10	MCF-7	breast:
11	chr4:6909455..6913239-chr4:7065910..7071137,7	K562	blood:
12	chr4:7052919..7061052-chr4:7065851..7072132,10	MCF-7	breast:

Variant related genes	Relation type
GRPEL1	TF binding region
ENSG00000265550	Chromatin interaction
ENSG00000013288	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000170871	Chromatin interaction
ENSG00000187904	Chromatin interaction
ENSG00000245748	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000202392	Chromatin interaction
ENSG00000109519	Chromatin interaction
ENSG00000170846	Chromatin interaction
ENSG00000251580	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28634454	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs41365350	0.91[EUR][1000 genomes]
rs41394850	0.82[EUR][1000 genomes]
rs41499144	0.82[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	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr4:7067200-7069400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr4:7068000-7069200	Flanking Active TSS	HUVEC	blood vessel
3	chr4:7068000-7070600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:7068000-7070600	Active TSS	Psoas Muscle	Psoas
5	chr4:7068200-7069200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr4:7068200-7069200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr4:7068200-7069200	Flanking Active TSS	Dnd41	blood
8	chr4:7068200-7069400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr4:7068200-7070600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:7068400-7069200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:7068400-7069200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:7068400-7069200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:7068400-7069200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr4:7068400-7069200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr4:7068400-7069200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr4:7068400-7069200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:7068400-7069200	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr4:7068400-7069200	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr4:7068400-7069200	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr4:7068400-7069200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr4:7068400-7069200	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr4:7068400-7069200	Flanking Active TSS	Fetal Lung	lung
23	chr4:7068400-7069200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr4:7068400-7069200	Flanking Active TSS	Small Intestine	intestine
25	chr4:7068400-7069400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr4:7068400-7069400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr4:7068400-7069400	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr4:7068400-7069400	Flanking Active TSS	Fetal Brain Female	brain
29	chr4:7068400-7069400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr4:7068400-7069400	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr4:7068400-7069400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr4:7068400-7069400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr4:7068400-7069400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr4:7068400-7069800	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr4:7068400-7070400	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr4:7068400-7070400	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr4:7068400-7070600	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr4:7068400-7071000	Active TSS	A549	lung
39	chr4:7068600-7069200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:7068600-7069200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr4:7068600-7069200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:7068600-7069200	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr4:7068600-7069200	Flanking Active TSS	Fetal Brain Male	brain
44	chr4:7068600-7069400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr4:7068600-7069400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr4:7068600-7069400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr4:7068600-7069400	Flanking Active TSS	Placenta	Placenta
48	chr4:7068600-7069400	Flanking Active TSS	NH-A	brain
49	chr4:7068600-7069800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr4:7068600-7069800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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