Variant report

Variant	rs558864631
Chromosome Location	chr7:7221318-7221319
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	chr7:7221255-7223005	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:7221289-7221722	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:7220925-7222989	K562	blood:	n/a	n/a
4	SMC3	chr7:7221301-7222139	GM12878	blood:	n/a	n/a
5	MYBL2	chr7:7221165-7222931	HepG2	liver:	n/a	n/a
6	TEAD4	chr7:7221220-7222731	K562	blood:	n/a	n/a
7	JUND	chr7:7221022-7222887	K562	blood:	n/a	chr7:7222867-7222876 chr7:7221196-7221205
8	POLR2A	chr7:7221130-7222905	GM12878	blood:	n/a	n/a
9	TCF12	chr7:7221146-7223092	A549	lung:	n/a	chr7:7222909-7222916
10	POLR2A	chr7:7221221-7221695	HepG2	liver:	n/a	n/a
11	HEY1	chr7:7221250-7222911	K562	blood:	n/a	chr7:7222777-7222792 chr7:7222143-7222158 chr7:7222776-7222791
12	REST	chr7:7221085-7222691	HL-60	blood:	n/a	chr7:7221675-7221693 chr7:7221658-7221678 chr7:7221960-7221980
13	RAD21	chr7:7221307-7222625	Hela-S3	cervix:	n/a	n/a
14	CREB1	chr7:7221300-7222744	GM12878	blood:	n/a	n/a
15	MAFK	chr7:7221304-7222466	Hela-S3	cervix:	n/a	chr7:7221606-7221622 chr7:7221607-7221618 chr7:7221517-7221532 chr7:7221698-7221708
16	NFIC	chr7:7221237-7222221	GM12878	blood:	n/a	chr7:7221390-7221418
17	RUNX3	chr7:7221225-7222840	GM12878	blood:	n/a	n/a
18	REST	chr7:7221275-7222195	A549	lung:	n/a	chr7:7221675-7221693 chr7:7221658-7221678 chr7:7221960-7221980
19	CEBPB	chr7:7221311-7222749	HepG2	liver:	n/a	n/a
20	USF2	chr7:7221302-7222171	Hela-S3	cervix:	n/a	chr7:7222139-7222155
21	POLR2A	chr7:7221253-7223194	K562	blood:	n/a	n/a
22	PML	chr7:7221228-7222887	GM12878	blood:	n/a	n/a
23	RCOR1	chr7:7220897-7223379	K562	blood:	n/a	n/a
24	RAD21	chr7:7221274-7223103	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr7:7221232-7221572	K562	blood:	n/a	n/a
26	MXI1	chr7:7221306-7222624	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:7221302-7222767	SK-N-MC	brain:	n/a	n/a
28	FOSL2	chr7:7221210-7222119	A549	lung:	n/a	n/a
29	MAX	chr7:7220946-7223134	NB4	blood:	n/a	chr7:7222508-7222518
30	RAD21	chr7:7221245-7222247	MCF-7	breast:	n/a	n/a
31	BHLHE40	chr7:7221259-7222739	K562	blood:	n/a	chr7:7222139-7222155
32	POLR2A	chr7:7221316-7222697	U87	brain:	n/a	n/a
33	POLR2A	chr7:7221300-7222231	GM12891	blood:	n/a	n/a
34	POLR2A	chr7:7221314-7223254	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr7:7221004-7223466	K562	blood:	n/a	n/a
36	CTCF	chr7:7221237-7222823	GM12878	blood:	n/a	n/a
37	ELF1	chr7:7221210-7222746	GM12878	blood:	n/a	chr7:7222460-7222469 chr7:7221731-7221744 chr7:7222108-7222120 chr7:7222556-7222568
38	GATA1	chr7:7221055-7222810	PBDE	blood:	n/a	chr7:7221415-7221428
39	TBL1XR1	chr7:7221299-7222101	K562	blood:	n/a	n/a
40	MAX	chr7:7221221-7223135	MCF-7	breast:	n/a	chr7:7222508-7222518
41	WRNIP1	chr7:7221235-7222110	GM12878	blood:	n/a	n/a
42	TBP	chr7:7221018-7222871	K562	blood:	n/a	n/a
43	POLR2A	chr7:7221118-7222852	U87	brain:	n/a	n/a
44	HEY1	chr7:7220755-7223351	HepG2	liver:	n/a	chr7:7222777-7222792 chr7:7222143-7222158 chr7:7222776-7222791
45	SP1	chr7:7221267-7222865	A549	lung:	n/a	chr7:7222230-7222244 chr7:7222228-7222240 chr7:7222235-7222244 chr7:7222108-7222117 chr7:7222229-7222238 chr7:7222233-7222245 chr7:7222106-7222118 chr7:7222233-7222245 chr7:7222228-7222240 chr7:7222230-7222239
46	MXI1	chr7:7220898-7225613	SK-N-SH	brain:	n/a	n/a
47	STAT5A	chr7:7221301-7222221	K562	blood:	n/a	chr7:7222129-7222141 chr7:7222115-7222127
48	MYC	chr7:7220933-7223032	K562	blood:	n/a	chr7:7222508-7222518
49	POLR2A	chr7:7220904-7223358	GM12891	blood:	n/a	n/a
50	MYC	chr7:7220910-7223253	NB4	blood:	n/a	chr7:7222508-7222518

No.	Distal block	Cell Line	Cell type
1	chr7:7220051..7223731-chr7:7605300..7608795,5	K562	blood:
2	chr7:7138712..7144572-chr7:7219459..7223789,7	K562	blood:
3	chr7:7220227..7222107-chr7:7381152..7382805,2	MCF-7	breast:
4	chr1:16678905..16679436-chr7:7221264..7221969,2	HCT-116	colon:
5	chr7:7220424..7222400-chr7:7606398..7608085,2	K562	blood:
6	chr7:7221023..7222531-chr7:7605504..7608100,2	MCF-7	breast:
7	chr7:7213763..7219997-chr7:7220116..7223880,12	MCF-7	breast:
8	chr7:7138294..7142693-chr7:7219176..7223789,9	K562	blood:

Variant related genes	Relation type
C1GALT1	TF binding region
ENSG00000272894	Chromatin interaction
ENSG00000244167	Chromatin interaction
ENSG00000201218	Chromatin interaction
ENSG00000164654	Chromatin interaction
ENSG00000037637	Chromatin interaction
ENSG00000055070	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers 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 miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1020929	chr7:6954959-7232920	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
5	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv464300	chr7:7040176-7368699	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv606033	chr7:7040176-7368699	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS 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	42 gene(s)	inside rSNPs	diseases
8	nsv1016369	chr7:7053923-7375567	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1023788	chr7:7053923-7407783	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv538720	chr7:7053923-7407783	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	nsv1032974	chr7:7145831-7393218	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
17	nsv508445	chr7:7190518-7261098	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
20	esv3372411	chr7:7220952-7223800	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 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	chr7:7220400-7221400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:7220400-7221600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr7:7220600-7221400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:7220600-7221800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr7:7220600-7224000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr7:7220800-7221400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:7220800-7221400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:7220800-7221400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:7220800-7221400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:7220800-7221400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr7:7220800-7221400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr7:7220800-7221400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr7:7220800-7221400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:7220800-7221400	Flanking Active TSS	Fetal Intestine Large	intestine
15	chr7:7220800-7221400	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr7:7220800-7221400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr7:7220800-7221400	Enhancers	Stomach Mucosa	stomach
18	chr7:7220800-7221400	Flanking Active TSS	Dnd41	blood
19	chr7:7220800-7221400	Flanking Active TSS	HSMMtube	muscle
20	chr7:7220800-7221400	Flanking Active TSS	Osteobl	bone
21	chr7:7220800-7221600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:7220800-7221600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr7:7220800-7221600	Flanking Active TSS	Rectal Smooth Muscle	rectum
24	chr7:7220800-7221600	Flanking Active TSS	HMEC	breast
25	chr7:7220800-7221600	Flanking Active TSS	NHEK	skin
26	chr7:7220800-7221800	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr7:7220800-7221800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr7:7220800-7221800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:7220800-7222000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:7220800-7222000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr7:7220800-7222000	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr7:7220800-7222000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr7:7220800-7222000	Flanking Active TSS	Hela-S3	cervix
34	chr7:7220800-7223800	Active TSS	Colonic Mucosa	Colon
35	chr7:7220800-7224800	Active TSS	Brain Anterior Caudate	brain
36	chr7:7220800-7225000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:7221000-7221400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:7221000-7221400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:7221000-7221400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr7:7221000-7221400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr7:7221000-7221400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:7221000-7221400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr7:7221000-7221400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr7:7221000-7221400	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr7:7221000-7221400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr7:7221000-7221400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr7:7221000-7221400	Flanking Active TSS	Fetal Stomach	stomach
48	chr7:7221000-7221400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr7:7221000-7221400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr7:7221000-7221600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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