Variant report

Variant	rs553321632
Chromosome Location	chr7:7221837-7221838
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	MAFK	chr7:7221485-7222129	HepG2	liver:	n/a	chr7:7221606-7221622 chr7:7221607-7221618 chr7:7221517-7221532 chr7:7221698-7221708
3	ELK1	chr7:7221324-7222012	K562	blood:	n/a	n/a
4	POLR2A	chr7:7221405-7223059	Hela-S3	cervix:	n/a	n/a
5	JUND	chr7:7221788-7222283	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:7220925-7222989	K562	blood:	n/a	n/a
7	SMC3	chr7:7221484-7222585	K562	blood:	n/a	n/a
8	SMC3	chr7:7221301-7222139	GM12878	blood:	n/a	n/a
9	MYC	chr7:7221809-7222154	K562	blood:	n/a	n/a
10	PML	chr7:7221395-7222196	K562	blood:	n/a	n/a
11	POLR2A	chr7:7221704-7222909	ProgFib	skin:	n/a	n/a
12	REST	chr7:7221758-7222149	SK-N-SH	brain:	n/a	chr7:7221960-7221980
13	RFX5	chr7:7221746-7222490	GM12878	blood:	n/a	n/a
14	MAFF	chr7:7221482-7222012	K562	blood:	n/a	n/a
15	POLR2A	chr7:7221360-7223128	Hela-S3	cervix:	n/a	n/a
16	YY1	chr7:7221789-7222697	SK-N-SH_RA	brain:	n/a	chr7:7222118-7222129 chr7:7222152-7222163 chr7:7222460-7222469
17	MAZ	chr7:7221346-7223679	IMR90	lung:	n/a	chr7:7222508-7222518
18	ZMIZ1	chr7:7221468-7222583	K562	blood:	n/a	n/a
19	MYBL2	chr7:7221165-7222931	HepG2	liver:	n/a	n/a
20	TAF1	chr7:7221827-7222083	Hela-S3	cervix:	n/a	n/a
21	SIN3AK20	chr7:7221703-7223163	PANC-1	pancreas:	n/a	n/a
22	TBP	chr7:7221368-7222526	GM12878	blood:	n/a	n/a
23	TEAD4	chr7:7221220-7222731	K562	blood:	n/a	n/a
24	JUND	chr7:7221022-7222887	K562	blood:	n/a	chr7:7222867-7222876 chr7:7221196-7221205
25	ELF1	chr7:7221339-7222525	K562	blood:	n/a	chr7:7222460-7222469 chr7:7221731-7221744 chr7:7222108-7222120
26	CTCF	chr7:7221748-7222758	K562	blood:	n/a	n/a
27	POLR2A	chr7:7221130-7222905	GM12878	blood:	n/a	n/a
28	GATA2	chr7:7221369-7222906	SH-SY5Y	brain:	n/a	chr7:7221415-7221428
29	TCF12	chr7:7221146-7223092	A549	lung:	n/a	chr7:7222909-7222916
30	HEY1	chr7:7221250-7222911	K562	blood:	n/a	chr7:7222777-7222792 chr7:7222143-7222158 chr7:7222776-7222791
31	REST	chr7:7221520-7222107	A549	lung:	n/a	chr7:7221675-7221693 chr7:7221658-7221678 chr7:7221960-7221980
32	JUND	chr7:7221337-7222538	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr7:7221330-7223032	GM12878	blood:	n/a	chr7:7222508-7222518
34	POLR2A	chr7:7221749-7223005	GM12878	blood:	n/a	n/a
35	TAF1	chr7:7221791-7222091	GM12891	blood:	n/a	n/a
36	REST	chr7:7221085-7222691	HL-60	blood:	n/a	chr7:7221675-7221693 chr7:7221658-7221678 chr7:7221960-7221980
37	MAZ	chr7:7221336-7223356	K562	blood:	n/a	chr7:7222508-7222518
38	RAD21	chr7:7221307-7222625	Hela-S3	cervix:	n/a	n/a
39	CREB1	chr7:7221300-7222744	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:7221806-7222575	A549	lung:	n/a	n/a
41	HCFC1	chr7:7221366-7222921	K562	blood:	n/a	n/a
42	TCF3	chr7:7221325-7223017	GM12878	blood:	n/a	chr7:7221486-7221496
43	MAFK	chr7:7221304-7222466	Hela-S3	cervix:	n/a	chr7:7221606-7221622 chr7:7221607-7221618 chr7:7221517-7221532 chr7:7221698-7221708
44	POLR2A	chr7:7221366-7223085	Hela-S3	cervix:	n/a	n/a
45	NFIC	chr7:7221237-7222221	GM12878	blood:	n/a	chr7:7221390-7221418
46	POLR2A	chr7:7221545-7223016	HCT-116	colon:	n/a	n/a
47	RUNX3	chr7:7221225-7222840	GM12878	blood:	n/a	n/a
48	STAT3	chr7:7221470-7222184	MCF10A-Er-Src	breast:	n/a	chr7:7222129-7222141 chr7:7222115-7222127
49	ZNF143	chr7:7221730-7222578	Hela-S3	cervix:	n/a	chr7:7222457-7222467
50	REST	chr7:7221275-7222195	A549	lung:	n/a	chr7:7221675-7221693 chr7:7221658-7221678 chr7:7221960-7221980

No.	Distal block	Cell Line	Cell type
1	chr7:7220051..7223731-chr7:7605300..7608795,5	K562	blood:
2	chr3:41240799..41241491-chr7:7221499..7222498,2	Hela-S3	cervix:
3	chr7:7138712..7144572-chr7:7219459..7223789,7	K562	blood:
4	chr12:42537869..42538573-chr7:7221502..7222431,2	Hela-S3	cervix:
5	chr11:62608960..62609483-chr7:7221717..7222360,2	HCT-116	colon:
6	chr20:42087032..42087701-chr7:7221482..7222050,2	Hela-S3	cervix:
7	chr7:7220227..7222107-chr7:7381152..7382805,2	MCF-7	breast:
8	chr15:90776699..90777449-chr7:7221482..7222271,2	Hela-S3	cervix:
9	chr1:16678905..16679436-chr7:7221264..7221969,2	HCT-116	colon:
10	chr7:7220424..7222400-chr7:7606398..7608085,2	K562	blood:
11	chr7:7221023..7222531-chr7:7605504..7608100,2	MCF-7	breast:
12	chr7:7213763..7219997-chr7:7220116..7223880,12	MCF-7	breast:
13	chr7:7138294..7142693-chr7:7219176..7223789,9	K562	blood:
14	chr2:211034902..211035782-chr7:7221578..7222378,2	NB4	blood:
15	chr3:10183327..10184184-chr7:7221819..7222735,2	Hela-S3	cervix:
16	chr7:7221414..7222034-chr7:30544206..30545163,2	NB4	blood:

Variant related genes	Relation type
C1GALT1	TF binding region
ENSG00000006625	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000272894	Chromatin interaction
ENSG00000144445	Chromatin interaction
ENSG00000164654	Chromatin interaction
ENSG00000185043	Chromatin interaction
ENSG00000244167	Chromatin interaction
ENSG00000055070	Chromatin interaction
ENSG00000134086	Chromatin interaction
ENSG00000037637	Chromatin interaction
ENSG00000183208	Chromatin interaction
ENSG00000201218	Chromatin interaction
ENSG00000151233	Chromatin interaction
ENSG00000168036	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7220600-7224000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:7220800-7222000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:7220800-7222000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr7:7220800-7222000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr7:7220800-7222000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr7:7220800-7222000	Flanking Active TSS	Hela-S3	cervix
7	chr7:7220800-7223800	Active TSS	Colonic Mucosa	Colon
8	chr7:7220800-7224800	Active TSS	Brain Anterior Caudate	brain
9	chr7:7220800-7225000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:7221000-7222000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:7221000-7222000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:7221000-7222000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr7:7221000-7222400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:7221000-7223200	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr7:7221000-7223800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:7221000-7223800	Active TSS	Fetal Kidney	kidney
17	chr7:7221000-7224000	Active TSS	Brain Cingulate Gyrus	brain
18	chr7:7221000-7224400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:7221000-7225000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:7221200-7222000	Flanking Active TSS	Liver	Liver
21	chr7:7221200-7222000	Flanking Active TSS	HUVEC	blood vessel
22	chr7:7221200-7222600	Active TSS	Brain Germinal Matrix	brain
23	chr7:7221200-7223000	Active TSS	Fetal Lung	lung
24	chr7:7221200-7223200	Active TSS	Small Intestine	intestine
25	chr7:7221200-7223400	Active TSS	Esophagus	oesophagus
26	chr7:7221200-7223400	Active TSS	Fetal Muscle Trunk	muscle
27	chr7:7221200-7223400	Active TSS	Gastric	stomach
28	chr7:7221200-7223400	Active TSS	Left Ventricle	heart
29	chr7:7221200-7223400	Active TSS	Pancreas	Pancrea
30	chr7:7221200-7223400	Active TSS	Psoas Muscle	Psoas
31	chr7:7221200-7223400	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr7:7221200-7223600	Active TSS	Brain Angular Gyrus	brain
33	chr7:7221200-7223600	Active TSS	Duodenum Mucosa	Duodenum
34	chr7:7221200-7223600	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr7:7221200-7223600	Active TSS	Thymus	Thymus
36	chr7:7221200-7223800	Active TSS	H9 Cell Line	embryonic stem cell
37	chr7:7221200-7223800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:7221200-7223800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:7221200-7223800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:7221200-7223800	Active TSS	Fetal Brain Male	brain
41	chr7:7221200-7223800	Active TSS	Right Atrium	heart
42	chr7:7221200-7223800	Active TSS	Right Ventricle	heart
43	chr7:7221200-7224000	Active TSS	GM12878-XiMat	blood
44	chr7:7221200-7224200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr7:7221200-7224400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr7:7221200-7224400	Active TSS	K562	blood
47	chr7:7221200-7224600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr7:7221200-7224800	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr7:7221200-7224800	Active TSS	HSMM	muscle
50	chr7:7221200-7225200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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