Variant report

Variant	rs560696083
Chromosome Location	chr1:228362217-228362218
allele	C/T
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	POLR2A	chr1:228362177-228362391	H1-hESC	embryonic stem cell:	n/a	n/a
2	TBP	chr1:228362089-228362438	H1-hESC	embryonic stem cell:	n/a	n/a
3	STAT1	chr1:228361784-228362248	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:228362168-228362468	MCF-7	breast:	n/a	n/a
5	CREB1	chr1:228362102-228362403	A549	lung:	n/a	n/a
6	POLR2A	chr1:228362116-228362482	K562	blood:	n/a	n/a
7	SP1	chr1:228361519-228362455	A549	lung:	n/a	chr1:228361646-228361660 chr1:228362372-228362386 chr1:228362261-228362275
8	TBP	chr1:228362099-228362442	K562	blood:	n/a	n/a
9	CBX3	chr1:228362119-228362489	K562	blood:	n/a	n/a
10	POLR2A	chr1:228362047-228362742	K562	blood:	n/a	n/a
11	SP4	chr1:228362124-228362433	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCFL	chr1:228362163-228362352	K562	blood:	n/a	n/a
13	IRF1	chr1:228361595-228362487	K562	blood:	n/a	n/a
14	SP1	chr1:228362086-228362463	H1-hESC	embryonic stem cell:	n/a	chr1:228362372-228362386 chr1:228362261-228362275
15	MAX	chr1:228362125-228362642	K562	blood:	n/a	chr1:228362364-228362373 chr1:228362371-228362381
16	POLR2A	chr1:228362138-228362488	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:228362197-228362462	HCT-116	colon:	n/a	n/a
18	ETS1	chr1:228362171-228362359	K562	blood:	n/a	n/a
19	CTCF	chr1:228362140-228362290	GM12869	blood:	n/a	chr1:228362249-228362262
20	YY1	chr1:228362108-228362456	K562	blood:	n/a	n/a
21	POLR2A	chr1:228362127-228362542	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr1:228362165-228362380	ProgFib	skin:	n/a	n/a
23	HCFC1	chr1:228362156-228362568	K562	blood:	n/a	n/a
24	TAF1	chr1:228362122-228362466	H1-hESC	embryonic stem cell:	n/a	n/a
25	HEY1	chr1:228362180-228362479	K562	blood:	n/a	n/a
26	MYC	chr1:228362207-228362225	MCF10A-Er-Src	breast:	n/a	n/a
27	SP1	chr1:228362100-228362417	GM12878	blood:	n/a	chr1:228362372-228362386 chr1:228362261-228362275
28	CCNT2	chr1:228361622-228362663	K562	blood:	n/a	n/a
29	MAX	chr1:228362080-228362391	K562	blood:	n/a	chr1:228362364-228362373 chr1:228362371-228362381
30	NR2F2	chr1:228362075-228362604	K562	blood:	n/a	n/a
31	ZNF143	chr1:228362150-228362292	K562	blood:	n/a	n/a
32	SP1	chr1:228361545-228362543	A549	lung:	n/a	chr1:228361646-228361660 chr1:228362372-228362386 chr1:228362261-228362275
33	TAF1	chr1:228362176-228362453	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAZ	chr1:228362115-228362522	K562	blood:	n/a	chr1:228362364-228362373 chr1:228362371-228362381
35	POLR2A	chr1:228362157-228362434	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr1:228361762-228362500	K562	blood:	n/a	chr1:228362364-228362373 chr1:228362371-228362381
37	HMGN3	chr1:228361404-228362692	K562	blood:	n/a	n/a
38	SP4	chr1:228362072-228362525	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr1:228362188-228362312	K562	blood:	n/a	n/a
40	CTCF	chr1:228362200-228362350	NHEK	skin:	n/a	chr1:228362249-228362262
41	MAX	chr1:228362121-228362635	ECC-1	luminal epithelium:	n/a	chr1:228362364-228362373 chr1:228362371-228362381
42	ZBTB7A	chr1:228362174-228362334	K562	blood:	n/a	n/a
43	CTCF	chr1:228362180-228362330	HCT-116	colon:	n/a	chr1:228362249-228362262
44	SP1	chr1:228361577-228362456	K562	blood:	n/a	chr1:228361646-228361660 chr1:228362372-228362386 chr1:228362261-228362275
45	POLR2A	chr1:228362022-228362580	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZNF143	chr1:228362157-228362485	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:228362188-228362409	K562	blood:	n/a	n/a
48	GABPA	chr1:228362163-228362792	K562	blood:	n/a	n/a
49	MYC	chr1:228362132-228362458	K562	blood:	n/a	chr1:228362364-228362373 chr1:228362371-228362381
50	RAD21	chr1:228362199-228362285	H1-hESC	embryonic stem cell:	n/a	chr1:228362249-228362263

No.	Distal block	Cell Line	Cell type
1	chr1:228269154..228271874-chr1:228360119..228363775,3	K562	blood:
2	chr1:228361423..228364297-chr1:228644461..228646940,2	K562	blood:
3	chr1:228360767..228363057-chr1:228399837..228402220,2	MCF-7	breast:
4	chr1:228350414..228357594-chr1:228359448..228365919,31	MCF-7	breast:
5	chr1:228295318..228298683-chr1:228360322..228363984,4	K562	blood:
6	chr1:228331165..228333412-chr1:228361433..228363518,2	MCF-7	breast:

Variant related genes	Relation type
IBA57	TF binding region
ENSG00000196890	Chromatin interaction
ENSG00000162910	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000162913	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000143774	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000181873	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
8	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
9	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
10	nsv549288	chr1:228327659-228363750	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	nsv549289	chr1:228327999-228371098	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv873260	chr1:228334277-228371098	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
13	nsv873262	chr1:228340653-228371098	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
14	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
15	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
16	esv1806558	chr1:228358977-228365154	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
17	esv1808523	chr1:228359177-228400358	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	esv3439695	chr1:228360954-228363502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
19	esv3439260	chr1:228361129-228363177	Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
20	esv3404829	chr1:228361629-228362727	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
21	esv3453767	chr1:228361704-228362286	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
22	esv3406590	chr1:228361708-228362292	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
23	esv3521777	chr1:228361750-228362301	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
24	esv3354748	chr1:228361761-228362258	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
25	esv3521778	chr1:228361769-228362231	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
26	esv3521779	chr1:228361769-228362231	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
27	esv4840	chr1:228361799-228362258	Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
28	esv3331992	chr1:228361835-228362263	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
29	esv3453768	chr1:228361846-228362217	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228354400-228362600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:228354400-228384600	Weak transcription	Aorta	Aorta
3	chr1:228354600-228362400	Weak transcription	Psoas Muscle	Psoas
4	chr1:228354600-228363600	Weak transcription	Primary B cells from cord blood	blood
5	chr1:228354600-228370400	Weak transcription	Right Atrium	heart
6	chr1:228354600-228382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:228354600-228385200	Weak transcription	Left Ventricle	heart
8	chr1:228354800-228362400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:228354800-228362400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:228354800-228362400	Weak transcription	Adipose Nuclei	Adipose
11	chr1:228354800-228362400	Weak transcription	Brain Anterior Caudate	brain
12	chr1:228354800-228362400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:228354800-228362400	Weak transcription	Fetal Brain Male	brain
14	chr1:228354800-228362600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:228354800-228362600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:228354800-228362600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:228354800-228362600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:228354800-228362800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:228354800-228362800	Weak transcription	Brain Angular Gyrus	brain
20	chr1:228354800-228362800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:228354800-228362800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:228354800-228363400	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:228354800-228364400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:228354800-228364400	Weak transcription	Brain Substantia Nigra	brain
25	chr1:228354800-228364600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:228354800-228365200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:228354800-228366400	Weak transcription	Liver	Liver
28	chr1:228354800-228367000	Weak transcription	Osteobl	bone
29	chr1:228354800-228370800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:228354800-228371200	Weak transcription	HSMMtube	muscle
31	chr1:228354800-228373200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:228355000-228362400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:228355000-228362400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:228355000-228362400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr1:228355000-228362400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:228355000-228362600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:228355000-228362600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:228355000-228362600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr1:228355000-228362600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:228355000-228362800	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:228355000-228364600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:228355000-228364800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:228355000-228364800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:228355000-228370600	Weak transcription	HepG2	liver
45	chr1:228355000-228372400	Weak transcription	Stomach Mucosa	stomach
46	chr1:228355000-228373200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr1:228355000-228373200	Weak transcription	Hela-S3	cervix
48	chr1:228355800-228362400	Weak transcription	Dnd41	blood
49	chr1:228355800-228364200	Strong transcription	Fetal Intestine Small	intestine
50	chr1:228356800-228362400	Weak transcription	Ovary	ovary

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