Variant report

Variant	rs552984217
Chromosome Location	chr7:139476775-139476776
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	MTA3	chr7:139475496-139477044	GM12878	blood:	n/a	n/a
2	ZBTB7A	chr7:139476625-139478556	K562	blood:	n/a	chr7:139478411-139478422
3	NRF1	chr7:139476766-139476960	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:139476237-139477002	GM12891	blood:	n/a	n/a
5	MAX	chr7:139476678-139476947	K562	blood:	n/a	n/a
6	CHD2	chr7:139476460-139476843	GM12878	blood:	n/a	n/a
7	SMC3	chr7:139476611-139476812	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:139476696-139477130	K562	blood:	n/a	n/a
9	TCF12	chr7:139476280-139477128	A549	lung:	n/a	chr7:139476400-139476407
10	NFIC	chr7:139475466-139476873	SK-N-SH	brain:	n/a	n/a
11	MAX	chr7:139476183-139477060	SK-N-SH	brain:	n/a	n/a
12	SMC3	chr7:139475522-139476890	Hela-S3	cervix:	n/a	n/a
13	TBP	chr7:139476294-139476882	Hela-S3	cervix:	n/a	n/a
14	SMC3	chr7:139473945-139477093	SK-N-SH	brain:	n/a	n/a
15	ZBTB7A	chr7:139476603-139478150	K562	blood:	n/a	n/a
16	POLR2A	chr7:139476632-139476919	HepG2	liver:	n/a	n/a
17	MXI1	chr7:139476326-139476833	Hela-S3	cervix:	n/a	n/a
18	RAD21	chr7:139475152-139477208	SK-N-SH	brain:	n/a	chr7:139475362-139475371
19	POLR2A	chr7:139476648-139476938	HepG2	liver:	n/a	n/a
20	REST	chr7:139476540-139476997	HepG2	liver:	n/a	n/a
21	HDAC2	chr7:139476643-139477064	HepG2	liver:	n/a	chr7:139476669-139476683
22	POLR2A	chr7:139475638-139476840	PBDE	blood:	n/a	n/a
23	YY1	chr7:139476538-139479022	SK-N-SH	brain:	n/a	chr7:139477424-139477435 chr7:139477529-139477543 chr7:139477955-139477969 chr7:139477902-139477921 chr7:139477412-139477432 chr7:139477226-139477240 chr7:139477901-139477921 chr7:139477535-139477546 chr7:139477507-139477515 chr7:139477989-139478000
24	POLR2A	chr7:139476505-139476948	Hela-S3	cervix:	n/a	n/a
25	CEBPD	chr7:139476667-139477079	HepG2	liver:	n/a	n/a
26	POLR2A	chr7:139476197-139477034	GM12892	blood:	n/a	n/a
27	SMARCB1	chr7:139476651-139477522	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr7:139475492-139477054	GM12892	blood:	n/a	n/a
29	EP300	chr7:139476413-139476857	GM12878	blood:	n/a	n/a
30	PML	chr7:139475507-139476802	GM12878	blood:	n/a	n/a
31	TBP	chr7:139476535-139476896	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:139476514-139478674	K562	blood:	n/a	n/a
33	RAD21	chr7:139475296-139476990	IMR90	lung:	n/a	chr7:139475362-139475371
34	TBP	chr7:139476665-139476953	HepG2	liver:	n/a	n/a
35	POLR2A	chr7:139476665-139476930	Hela-S3	cervix:	n/a	n/a
36	MYBL2	chr7:139476499-139477021	HepG2	liver:	n/a	n/a
37	BACH1	chr7:139476693-139477070	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr7:139476564-139476817	MCF10A-Er-Src	breast:	n/a	n/a
39	SIN3AK20	chr7:139476484-139476800	A549	lung:	n/a	n/a
40	MAX	chr7:139475545-139476813	NB4	blood:	n/a	n/a
41	SIN3A	chr7:139476485-139477054	H1-hESC	embryonic stem cell:	n/a	n/a
42	MXI1	chr7:139475623-139476804	GM12878	blood:	n/a	n/a
43	MAZ	chr7:139475712-139476804	GM12878	blood:	n/a	n/a
44	RELA	chr7:139475623-139477005	GM19099	blood:	n/a	chr7:139476022-139476031 chr7:139476022-139476031
45	POLR2A	chr7:139476454-139476892	GM12891	blood:	n/a	n/a
46	CHD1	chr7:139475591-139477005	GM12878	blood:	n/a	n/a
47	RAD21	chr7:139476247-139477019	SK-N-SH_RA	brain:	n/a	n/a
48	MAX	chr7:139476317-139476996	Hela-S3	cervix:	n/a	n/a
49	HEY1	chr7:139476536-139477045	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:139475534-139477001	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:26158181..26160251-chr7:139476447..139479207,2	K562	blood:
2	chr1:45987489..45988144-chr7:139476148..139477015,2	Hela-S3	cervix:

Variant related genes	Relation type
TBXAS1	TF binding region
ENSG00000158373	Chromatin interaction
ENSG00000117450	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3442657	chr7:139476008-139478856	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3374483	chr7:139476358-139478831	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3371546	chr7:139476533-139478481	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr7:139474800-139478400	Active TSS	Right Ventricle	heart
2	chr7:139475200-139477000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr7:139475400-139477000	Active TSS	Stomach Mucosa	stomach
4	chr7:139475400-139477000	Flanking Active TSS	Dnd41	blood
5	chr7:139475400-139478200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:139475400-139478200	Active TSS	Thymus	Thymus
7	chr7:139475400-139478400	Active TSS	Stomach Smooth Muscle	stomach
8	chr7:139475400-139478600	Active TSS	Fetal Brain Female	brain
9	chr7:139475400-139478600	Active TSS	Lung	lung
10	chr7:139475400-139478800	Active TSS	Aorta	Aorta
11	chr7:139475400-139478800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:139475600-139476800	Flanking Active TSS	K562	blood
13	chr7:139475600-139477000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:139475600-139477200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr7:139475600-139477200	Active TSS	Brain Angular Gyrus	brain
16	chr7:139475600-139477200	Active TSS	Fetal Kidney	kidney
17	chr7:139475600-139477200	Active TSS	Fetal Lung	lung
18	chr7:139475600-139478000	Active TSS	Colonic Mucosa	Colon
19	chr7:139475600-139478000	Active TSS	Pancreas	Pancrea
20	chr7:139475600-139478200	Active TSS	Gastric	stomach
21	chr7:139475600-139478200	Active TSS	Right Atrium	heart
22	chr7:139475600-139478400	Active TSS	Brain Hippocampus Middle	brain
23	chr7:139475600-139478600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:139475600-139478600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr7:139475600-139478600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:139475600-139478600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:139475600-139478600	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr7:139475600-139478800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:139475600-139478800	Active TSS	Left Ventricle	heart
30	chr7:139475600-139478800	Active TSS	Psoas Muscle	Psoas
31	chr7:139475600-139479000	Active TSS	NHLF	lung
32	chr7:139475800-139476800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr7:139475800-139477000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr7:139475800-139477000	Active TSS	Brain Germinal Matrix	brain
35	chr7:139475800-139477200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:139475800-139477200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:139475800-139477200	Active TSS	Brain Substantia Nigra	brain
38	chr7:139475800-139478200	Active TSS	Primary monocytes fromperipheralblood	blood
39	chr7:139475800-139478200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:139475800-139478200	Active TSS	Adipose Nuclei	Adipose
41	chr7:139475800-139478200	Active TSS	Liver	Liver
42	chr7:139475800-139478200	Active TSS	Placenta	Placenta
43	chr7:139475800-139478200	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr7:139475800-139478200	Active TSS	GM12878-XiMat	blood
45	chr7:139475800-139478200	Active TSS	HMEC	breast
46	chr7:139475800-139478400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:139475800-139478400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:139475800-139478400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:139475800-139478400	Active TSS	Brain Anterior Caudate	brain
50	chr7:139475800-139478400	Active TSS	Brain Cingulate Gyrus	brain

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