Variant report

Variant	rs368886090
Chromosome Location	chr1:227922311-227922312
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:227922173-227922319	K562	blood:	n/a	n/a
2	POLR2A	chr1:227922095-227923743	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr1:227922310-227922324	HepG2	liver:	n/a	n/a
4	MAX	chr1:227922265-227923415	MCF-7	breast:	n/a	chr1:227922598-227922607
5	POLR2A	chr1:227922205-227924256	PBDE	blood:	n/a	n/a
6	SIN3AK20	chr1:227922266-227923575	K562	blood:	n/a	n/a
7	MYC	chr1:227922282-227923383	NB4	blood:	n/a	chr1:227922598-227922607
8	MAZ	chr1:227922175-227924196	IMR90	lung:	n/a	chr1:227922598-227922607
9	CTCF	chr1:227922300-227922450	HCPEpiC	choroid plexus:	n/a	n/a
10	POLR2A	chr1:227922135-227923848	HepG2	liver:	n/a	n/a
11	MAX	chr1:227922166-227923527	A549	lung:	n/a	chr1:227922598-227922607
12	POLR2A	chr1:227921936-227924227	MCF10A-Er-Src	breast:	n/a	n/a
13	REST	chr1:227922234-227923744	H1-neurons	neurons:	n/a	chr1:227922319-227922339
14	HCFC1	chr1:227922209-227923627	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:227922298-227923555	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:227922180-227923715	GM12892	blood:	n/a	n/a
17	CTCF	chr1:227922180-227922330	HEEpiC	esophagus:	n/a	n/a
18	MXI1	chr1:227921582-227923837	IMR90	lung:	n/a	n/a
19	POLR2A	chr1:227922290-227923402	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:227921962-227923649	PFSK-1	brain:	n/a	n/a
21	MYC	chr1:227922283-227923324	K562	blood:	n/a	chr1:227922598-227922607
22	POLR2A	chr1:227922244-227923694	GM19193	blood:	n/a	n/a
23	POLR2A	chr1:227922177-227923630	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr1:227922188-227923639	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:227922134-227923498	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr1:227922088-227923604	GM12891	blood:	n/a	n/a
27	ZNF263	chr1:227922204-227924083	HEK293-T-REx	kidney:	n/a	chr1:227923299-227923308
28	POLR2A	chr1:227922147-227924196	K562	blood:	n/a	n/a
29	POLR2A	chr1:227922281-227923402	NB4	blood:	n/a	n/a
30	POLR2A	chr1:227922080-227923603	SK-N-MC	brain:	n/a	n/a
31	MXI1	chr1:227922255-227923265	GM12878	blood:	n/a	n/a
32	CTCF	chr1:227922240-227922390	AG10803	skin:	n/a	n/a
33	SIN3A	chr1:227922290-227923338	H1-hESC	embryonic stem cell:	n/a	n/a
34	NR2F2	chr1:227922271-227923336	K562	blood:	n/a	n/a
35	POLR2A	chr1:227922297-227923498	MCF-7	breast:	n/a	n/a
36	CREB1	chr1:227922265-227923512	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr1:227922234-227923408	MCF-7	breast:	n/a	n/a
38	POLR2A	chr1:227922079-227924238	MCF10A-Er-Src	breast:	n/a	n/a
39	MAX	chr1:227922300-227923357	H1-hESC	embryonic stem cell:	n/a	chr1:227922598-227922607
40	POLR2A	chr1:227922232-227923607	Raji	blood:	n/a	n/a
41	POLR2A	chr1:227922234-227922430	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr1:227922288-227924128	H1-hESC	embryonic stem cell:	n/a	n/a
43	WRNIP1	chr1:227922269-227922518	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:227922154-227923557	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr1:227922084-227923421	K562	blood:	n/a	chr1:227922598-227922607
46	POLR2A	chr1:227922218-227923581	GM12878	blood:	n/a	n/a
47	POLR2A	chr1:227922231-227923377	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:227922218-227923916	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr1:227922223-227923637	GM12878	blood:	n/a	n/a
50	JUN	chr1:227921816-227924147	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227922309-227922359	SK-N-SH	brain:	n/a
2	chr1:227922304-227922354	NB4	blood:	n/a
3	chr1:227922304-227922354	SAEC	small airway:	n/a
4	chr1:227922309-227922359	ECC-1	luminal epithelium:	n/a
5	chr1:227922304-227922354	HNPCEpiC	eye:	n/a
6	chr1:227922304-227922354	LNCaP	prostate:	n/a
7	chr1:227922309-227922359	A549	lung:	n/a
8	chr1:227922309-227922359	LNCaP	prostate:	n/a
9	chr1:227922304-227922354	Hepatocyte	liver:	n/a
10	chr1:227922304-227922354	GM19239	blood:	n/a
11	chr1:227922304-227922354	BJ	skin:	n/a
12	chr1:227922304-227922354	Hela-S3	cervix:	n/a
13	chr1:227922304-227922354	U87	brain:	n/a
14	chr1:227922304-227922354	GM12878	blood:	n/a
15	chr1:227922309-227922359	NHBE	bronchial:	n/a
16	chr1:227922309-227922359	SKMC	muscle:	n/a
17	chr1:227922304-227922354	PFSK-1	brain:	n/a
18	chr1:227922304-227922354	IMR90	lung:	fetal
19	chr1:227922304-227922354	PrEC	prostate:	n/a
20	chr1:227922304-227922354	HAEpiC	amniotic membrane:	n/a
21	chr1:227922304-227922354	HPAEpiC	pulmonary alveolar:	n/a
22	chr1:227922304-227922354	NT2-D1	testis:	n/a
23	chr1:227922309-227922359	GM06990	blood:	n/a
24	chr1:227922309-227922359	HIPEpiC	eye:	n/a
25	chr1:227922309-227922359	BJ	skin:	n/a
26	chr1:227922304-227922354	H1-hESC	embryonic stem cell:	embryo
27	chr1:227922304-227922354	HRE	kidney:	n/a
28	chr1:227922304-227922354	GM12892	blood:	n/a
29	chr1:227922304-227922354	CMK	blood:	n/a
30	chr1:227922304-227922354	MCF10A-Er-Src	breast:	n/a
31	chr1:227922304-227922354	NHBE	bronchial:	n/a
32	chr1:227922309-227922359	H1-hESC	embryonic stem cell:	embryo
33	chr1:227922304-227922354	HRPEpiC	eye:	n/a
34	chr1:227922309-227922359	GM12878	blood:	n/a
35	chr1:227922304-227922354	HCPEpiC	choroid plexus:	n/a
36	chr1:227922304-227922354	HEEpiC	esophagus:	n/a
37	chr1:227922309-227922359	Hela-S3	cervix:	n/a
38	chr1:227922304-227922354	HEK293	kidney:	embryo
39	chr1:227922309-227922359	HCPEpiC	choroid plexus:	n/a
40	chr1:227922309-227922359	AG09309	skin:	n/a
41	chr1:227922309-227922359	GM19239	blood:	n/a
42	chr1:227922304-227922354	ProgFib	skin:	n/a
43	chr1:227922304-227922354	MCF-7	breast:	n/a
44	chr1:227922309-227922359	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:227922304-227922354	RPTEC	kidney:	n/a
46	chr1:227922309-227922359	IMR90	lung:	fetal
47	chr1:227922309-227922359	MCF10A-Er-Src	breast:	n/a
48	chr1:227922304-227922354	HL-60	blood:	n/a
49	chr1:227922304-227922354	T-47D	breast:	n/a
50	chr1:227922309-227922359	Hepatocyte	liver:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227921116..227923050-chr1:228289460..228292114,2	MCF-7	breast:
2	chr1:227918805..227924684-chr1:227929963..227939883,12	K562	blood:
3	chr1:227750240..227752795-chr1:227921793..227923560,2	K562	blood:
4	chr1:227921956..227924183-chr1:227932541..227935696,3	MCF-7	breast:
5	chr1:227921488..227923041-chr1:228269667..228272192,2	MCF-7	breast:
6	chr1:227916221..227923035-chr1:228131852..228141791,18	MCF-7	breast:

No data

Variant related genes	Relation type
SNAP47	TF binding region
JMJD4	TF binding region
JMJD4	CpG island
SNAP47	CpG island
ENSG00000143740	Chromatin interaction
ENSG00000143816	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000143793	Chromatin interaction
ENSG00000181450	Chromatin interaction
ENSG00000230005	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS 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	73 gene(s)	inside rSNPs	diseases
4	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
5	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	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
7	nsv515496	chr1:227912474-227967938	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv3375515	chr1:227921854-227924702	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227921400-227922600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:227921600-227922400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:227921600-227922400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:227921600-227922400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr1:227921600-227922400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr1:227921600-227922400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:227921600-227922400	Flanking Active TSS	Colon Smooth Muscle	Colon
8	chr1:227921600-227922400	Flanking Active TSS	Fetal Thymus	thymus
9	chr1:227921600-227922400	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr1:227921600-227922400	Enhancers	Small Intestine	intestine
11	chr1:227921600-227922600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr1:227921600-227922600	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr1:227921600-227922600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:227921600-227922600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr1:227921600-227922600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr1:227921600-227922600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr1:227921600-227923000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:227921600-227923000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:227921600-227923600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:227921600-227923600	Active TSS	Placenta Amnion	Placenta Amnion
21	chr1:227921600-227924200	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:227921600-227924200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:227921800-227922400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:227921800-227922400	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr1:227921800-227922400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr1:227921800-227922400	Flanking Active TSS	HUVEC	blood vessel
27	chr1:227921800-227922400	Flanking Active TSS	NH-A	brain
28	chr1:227921800-227922600	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr1:227921800-227922600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:227921800-227922600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr1:227921800-227922600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:227921800-227922600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:227921800-227922600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr1:227921800-227922600	Flanking Active TSS	Fetal Brain Female	brain
35	chr1:227921800-227922600	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr1:227921800-227922600	Flanking Active TSS	Placenta	Placenta
37	chr1:227921800-227922600	Flanking Active TSS	Dnd41	blood
38	chr1:227921800-227922800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr1:227921800-227922800	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr1:227921800-227923800	Active TSS	GM12878-XiMat	blood
41	chr1:227921800-227924200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:227921800-227924200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:227921800-227924200	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr1:227921800-227924200	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr1:227921800-227924200	Active TSS	A549	lung
46	chr1:227922000-227922400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr1:227922000-227922400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr1:227922000-227922400	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr1:227922000-227922400	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr1:227922000-227922400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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