Variant report

Variant	rs535272964
Chromosome Location	chr12:122460601-122460602
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	YY1	chr12:122460321-122460645	GM12878	blood:	n/a	n/a
2	MAX	chr12:122460322-122460605	K562	blood:	n/a	n/a
3	MAX	chr12:122460387-122462455	HepG2	liver:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
4	POLR2A	chr12:122459566-122460710	H1-neurons	neurons:	n/a	n/a
5	MAX	chr12:122459688-122462184	A549	lung:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
6	ELF1	chr12:122460581-122462215	GM12878	blood:	n/a	chr12:122461414-122461425
7	POLR2A	chr12:122459504-122462244	K562	blood:	n/a	n/a
8	MAX	chr12:122460225-122460616	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr12:122458987-122462622	IMR90	lung:	n/a	n/a
10	YY1	chr12:122460268-122460663	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr12:122459567-122460874	Hela-S3	cervix:	n/a	n/a
12	TAF1	chr12:122459579-122460888	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr12:122460217-122460847	K562	blood:	n/a	n/a
14	MAX	chr12:122460227-122462026	ECC-1	luminal epithelium:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
15	CCNT2	chr12:122459411-122461031	K562	blood:	n/a	n/a
16	SIN3A	chr12:122460344-122462087	H1-hESC	embryonic stem cell:	n/a	chr12:122461909-122461917 chr12:122461220-122461229
17	YY1	chr12:122460328-122460608	SK-N-SH_RA	brain:	n/a	n/a
18	E2F6	chr12:122460283-122461854	A549	lung:	n/a	chr12:122460464-122460475 chr12:122460861-122460871
19	MAX	chr12:122460219-122462478	K562	blood:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
20	POLR2A	chr12:122459437-122460650	A549	lung:	n/a	n/a
21	MAX	chr12:122460255-122460686	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:122460287-122461762	HUVEC	blood vessel:	n/a	n/a
23	REST	chr12:122459181-122460759	H1-neurons	neurons:	n/a	n/a
24	E2F6	chr12:122460179-122460730	H1-hESC	embryonic stem cell:	n/a	chr12:122460464-122460475
25	UBTF	chr12:122459774-122462155	K562	blood:	n/a	n/a
26	POLR2A	chr12:122459525-122460626	GM18951	blood:	n/a	n/a
27	E2F6	chr12:122460324-122460652	K562	blood:	n/a	chr12:122460464-122460475
28	POLR2A	chr12:122460562-122461212	K562	blood:	n/a	n/a
29	POLR2A	chr12:122459529-122460620	K562	blood:	n/a	n/a
30	HEY1	chr12:122460596-122461978	K562	blood:	n/a	n/a
31	MAX	chr12:122459118-122462416	HepG2	liver:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122459589-122459599 chr12:122461435-122461445
32	POLR2A	chr12:122459526-122461378	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr12:122459506-122462370	GM19193	blood:	n/a	n/a
34	MXI1	chr12:122458857-122462827	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr12:122459325-122460721	K562	blood:	n/a	n/a
36	YY1	chr12:122459620-122460881	K562	blood:	n/a	chr12:122459910-122459921
37	POLR2A	chr12:122459539-122460693	K562	blood:	n/a	n/a
38	POLR2A	chr12:122459218-122461455	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr12:122458921-122462255	A549	lung:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122459589-122459599 chr12:122461435-122461445
40	ZBTB7A	chr12:122460562-122461670	ECC-1	luminal epithelium:	n/a	n/a
41	MAX	chr12:122460288-122462089	MCF-7	breast:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
42	E2F6	chr12:122460297-122460697	A549	lung:	n/a	chr12:122460464-122460475
43	E2F6	chr12:122459590-122462199	K562	blood:	n/a	chr12:122460464-122460475 chr12:122459771-122459781 chr12:122460861-122460871 chr12:122459782-122459791
44	UBTF	chr12:122459291-122462457	K562	blood:	n/a	n/a
45	FOXA2	chr12:122460470-122461844	A549	lung:	n/a	n/a
46	TAF1	chr12:122460215-122460985	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:122459527-122460605	GM15510	blood:	n/a	n/a
48	E2F6	chr12:122460265-122460709	H1-hESC	embryonic stem cell:	n/a	chr12:122460464-122460475
49	MAX	chr12:122460379-122462371	SK-N-SH	brain:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122461435-122461445
50	POLR2A	chr12:122460342-122463264	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122234286..122236802-chr12:122459405..122461225,2	K562	blood:
2	chr12:122457603..122461416-chr12:122608714..122613817,5	MCF-7	breast:
3	chr12:122240859..122242424-chr12:122459366..122461446,2	K562	blood:
4	chr12:122240924..122242640-chr12:122459339..122461446,2	K562	blood:
5	chr12:122459612..122462299-chr12:122516387..122519300,2	K562	blood:
6	chr12:122459811..122462052-chr12:122500619..122502679,2	K562	blood:
7	chr12:122459459..122461695-chr12:122710698..122713171,3	MCF-7	breast:
8	chr12:122230934..122233822-chr12:122459500..122463009,3	MCF-7	breast:
9	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
10	chr12:122356337..122361793-chr12:122458841..122462522,5	MCF-7	breast:
11	chr12:122370271..122373728-chr12:122458243..122461695,4	K562	blood:
12	chr12:122295977..122297667-chr12:122459919..122461653,2	K562	blood:
13	chr12:122428522..122431508-chr12:122460147..122462626,2	MCF-7	breast:
14	chr12:122458897..122461646-chr12:122516392..122519046,3	MCF-7	breast:
15	chr12:122459975..122462130-chr12:122612185..122613777,2	MCF-7	breast:
16	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
17	chr12:122458978..122460744-chr12:122667663..122669885,2	MCF-7	breast:
18	chr12:122355313..122357386-chr12:122460176..122462387,2	K562	blood:
19	chr12:122325420..122328140-chr12:122460188..122462460,4	MCF-7	breast:
20	chr12:122236783..122240484-chr12:122457021..122461932,5	MCF-7	breast:
21	chr12:122460578..122461397-chr21:47878363..47878963,2	Hela-S3	cervix:
22	chr12:122325656..122327392-chr12:122459155..122461282,2	K562	blood:
23	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
24	chr12:122459684..122462243-chr12:122749527..122751932,2	MCF-7	breast:
25	chr12:122457987..122461924-chr12:122515396..122519074,6	MCF-7	breast:
26	chr12:122459897..122461527-chr12:122480652..122483460,2	K562	blood:
27	chr12:122237036..122238620-chr12:122459729..122461311,2	K562	blood:
28	chr12:122460064..122462817-chr12:122499395..122500991,2	MCF-7	breast:
29	chr12:122459405..122462233-chr12:122501246..122503627,3	MCF-7	breast:
30	chr12:122460432..122462517-chr12:122503179..122505981,2	MCF-7	breast:
31	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:
32	chr12:122459539..122463256-chr12:122498402..122502892,4	MCF-7	breast:
33	chr12:122235276..122236948-chr12:122459921..122462305,2	MCF-7	breast:
34	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
35	chr12:122437989..122441020-chr12:122459413..122461657,5	MCF-7	breast:
36	chr12:122063733..122066437-chr12:122459262..122461186,2	MCF-7	breast:
37	chr12:122399815..122401399-chr12:122459120..122461080,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255856	TF binding region
ENSG00000139719	Chromatin interaction
ENSG00000158104	Chromatin interaction
ENSG00000176383	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000256546	Chromatin interaction
ENSG00000160305	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000158113	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000158023	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv3338715	chr12:122457569-122462467	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv3388753	chr12:122458594-122461542	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
6	esv3425442	chr12:122459394-122461942	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
7	esv3406676	chr12:122459519-122461517	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122458800-122461000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:122458800-122461200	Active TSS	A549	lung
3	chr12:122458800-122461800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:122459000-122461000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:122459000-122461000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:122459000-122461800	Active TSS	Psoas Muscle	Psoas
7	chr12:122459000-122461800	Active TSS	Thymus	Thymus
8	chr12:122459000-122462000	Active TSS	Fetal Kidney	kidney
9	chr12:122459200-122461000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:122459200-122461000	Active TSS	NHLF	lung
11	chr12:122459200-122461200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122459200-122461200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:122459200-122461200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:122459200-122461200	Active TSS	Brain Anterior Caudate	brain
15	chr12:122459200-122461600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:122459200-122461600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:122459200-122461600	Active TSS	Lung	lung
18	chr12:122459200-122461600	Active TSS	Right Ventricle	heart
19	chr12:122459200-122461800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:122459200-122461800	Active TSS	Fetal Brain Female	brain
21	chr12:122459200-122462000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:122459200-122462000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr12:122459200-122462000	Active TSS	Colon Smooth Muscle	Colon
24	chr12:122459200-122462000	Active TSS	Ovary	ovary
25	chr12:122459200-122462400	Active TSS	Aorta	Aorta
26	chr12:122459200-122462400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr12:122459400-122460800	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr12:122459400-122460800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr12:122459400-122460800	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
30	chr12:122459400-122460800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:122459400-122460800	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr12:122459400-122460800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:122459400-122460800	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr12:122459400-122460800	Weak transcription	Fetal Heart	heart
35	chr12:122459400-122460800	Active TSS	Fetal Muscle Trunk	muscle
36	chr12:122459400-122460800	Active TSS	Fetal Muscle Leg	muscle
37	chr12:122459400-122460800	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr12:122459400-122461000	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr12:122459400-122461000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr12:122459400-122461000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr12:122459400-122461000	Active TSS	Primary B cells from peripheral blood	blood
42	chr12:122459400-122461000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr12:122459400-122461000	Active TSS	Duodenum Mucosa	Duodenum
44	chr12:122459400-122461000	Active TSS	Spleen	Spleen
45	chr12:122459400-122461000	Active TSS	Dnd41	blood
46	chr12:122459400-122461000	Active TSS	Hela-S3	cervix
47	chr12:122459400-122461000	Active TSS	K562	blood
48	chr12:122459400-122461200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:122459400-122461200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr12:122459400-122461200	Active TSS	Primary T helper naive cells from peripheral blood	blood

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