Variant report

Variant	rs570249106
Chromosome Location	chr7:8008457-8008458
allele	-/GCG/GCGGCG/GCGGCGGCGGCG
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	CREB1	chr7:8008016-8009264	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr7:8008178-8009069	H1-neurons	neurons:	n/a	chr7:8008404-8008414 chr7:8008595-8008608 chr7:8008492-8008505 chr7:8008196-8008209
3	RAD21	chr7:8008153-8008967	H1-hESC	embryonic stem cell:	n/a	chr7:8008361-8008375 chr7:8008506-8008520 chr7:8008323-8008330
4	TAF1	chr7:8007980-8009094	ECC-1	luminal epithelium:	n/a	n/a
5	MYBL2	chr7:8008021-8008563	HepG2	liver:	n/a	n/a
6	EP300	chr7:8007883-8009275	SK-N-SH	brain:	n/a	chr7:8008364-8008380 chr7:8008690-8008699 chr7:8008398-8008414 chr7:8008951-8008960 chr7:8008794-8008810 chr7:8008371-8008387
7	NFIC	chr7:8007776-8008815	GM12878	blood:	n/a	n/a
8	MAX	chr7:8007796-8009064	MCF-7	breast:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
9	ELF1	chr7:8008141-8008562	K562	blood:	n/a	chr7:8008392-8008404
10	POLR2A	chr7:8008020-8009207	PANC-1	pancreas:	n/a	n/a
11	MYC	chr7:8007511-8009987	K562	blood:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
12	MXI1	chr7:8007930-8009013	HepG2	liver:	n/a	n/a
13	JUND	chr7:8008060-8008698	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:8007951-8009119	PANC-1	pancreas:	n/a	n/a
15	E2F6	chr7:8007942-8009116	A549	lung:	n/a	chr7:8008689-8008699 chr7:8008925-8008937 chr7:8008805-8008814 chr7:8008935-8008944 chr7:8008400-8008409
16	E2F6	chr7:8007919-8009813	K562	blood:	n/a	chr7:8008689-8008699 chr7:8008925-8008937 chr7:8008805-8008814 chr7:8008935-8008944 chr7:8009344-8009356 chr7:8008400-8008409
17	CEBPD	chr7:8008140-8008866	HepG2	liver:	n/a	n/a
18	TCF12	chr7:8007931-8008464	GM12878	blood:	n/a	n/a
19	ZBTB7A	chr7:8007906-8009044	ECC-1	luminal epithelium:	n/a	n/a
20	RAD21	chr7:8008029-8008940	H1-hESC	embryonic stem cell:	n/a	chr7:8008361-8008375 chr7:8008506-8008520 chr7:8008323-8008330
21	TAF1	chr7:8008309-8008684	HepG2	liver:	n/a	n/a
22	REST	chr7:8008306-8009111	PFSK-1	brain:	n/a	chr7:8008404-8008414 chr7:8008595-8008608 chr7:8008492-8008505
23	PML	chr7:8007869-8008650	GM12878	blood:	n/a	n/a
24	PML	chr7:8007919-8009237	MCF-7	breast:	n/a	n/a
25	POLR2A	chr7:8007956-8008622	SK-N-MC	brain:	n/a	n/a
26	STAT5A	chr7:8008409-8009107	GM12878	blood:	n/a	chr7:8008864-8008876 chr7:8008782-8008794
27	MYC	chr7:8007634-8008866	MCF10A-Er-Src	breast:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
28	MTA3	chr7:8006906-8010045	GM12878	blood:	n/a	n/a
29	NFATC1	chr7:8007757-8009173	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:8007164-8012302	GM12878	blood:	n/a	n/a
31	HEY1	chr7:8008007-8008710	HepG2	liver:	n/a	n/a
32	NFYA	chr7:8007728-8008553	Hela-S3	cervix:	n/a	chr7:8008306-8008316
33	RCOR1	chr7:8007924-8009080	Hela-S3	cervix:	n/a	n/a
34	TCF12	chr7:8008008-8009118	ECC-1	luminal epithelium:	n/a	n/a
35	CREB1	chr7:8008024-8008613	A549	lung:	n/a	n/a
36	EP300	chr7:8007832-8009094	GM12878	blood:	n/a	chr7:8008364-8008380 chr7:8008690-8008699 chr7:8008398-8008414 chr7:8008951-8008960 chr7:8008794-8008810 chr7:8008371-8008387
37	MAZ	chr7:8007935-8008925	HepG2	liver:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
38	SIN3A	chr7:8007872-8010871	H1-hESC	embryonic stem cell:	n/a	chr7:8008206-8008219 chr7:8008208-8008219
39	MAX	chr7:8007829-8010023	NB4	blood:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
40	TCF12	chr7:8007889-8009098	GM12878	blood:	n/a	n/a
41	FOS	chr7:8008090-8008686	K562	blood:	n/a	n/a
42	POLR2A	chr7:8007896-8009844	K562	blood:	n/a	n/a
43	MYC	chr7:8007987-8009504	MCF-7	breast:	n/a	chr7:8008789-8008799 chr7:8008803-8008813
44	HMGN3	chr7:8008001-8009521	K562	blood:	n/a	n/a
45	CTCF	chr7:8008360-8008510	SK-N-SH_RA	brain:	n/a	chr7:8008361-8008374
46	TBL1XR1	chr7:8007520-8009091	GM12878	blood:	n/a	n/a
47	PBX3	chr7:8007863-8009028	SK-N-SH	brain:	n/a	n/a
48	HEY1	chr7:8007919-8009318	K562	blood:	n/a	chr7:8008921-8008936 chr7:8008745-8008760
49	EBF1	chr7:8007967-8008961	GM12878	blood:	n/a	n/a
50	E2F6	chr7:8008390-8009120	A549	lung:	n/a	chr7:8008689-8008699 chr7:8008925-8008937 chr7:8008805-8008814 chr7:8008935-8008944 chr7:8008400-8008409

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:8008421-8008471	GM12878	blood:	n/a
2	chr7:8008421-8008471	T-47D	breast:	n/a
3	chr7:8008421-8008471	HCF	heart:	n/a
4	chr7:8008421-8008471	SK-N-SH_RA	brain:	n/a
5	chr7:8008421-8008471	Hela-S3	cervix:	n/a
6	chr7:8008421-8008471	HCT-116	colon:	n/a
7	chr7:8008421-8008471	ProgFib	skin:	n/a
8	chr7:8008421-8008471	NB4	blood:	n/a
9	chr7:8008421-8008471	HCM	heart:	n/a
10	chr7:8008421-8008471	SK-N-SH	brain:	n/a
11	chr7:8008421-8008471	NH-A	brain:	n/a
12	chr7:8008421-8008471	BJ	skin:	n/a
13	chr7:8008421-8008471	CMK	blood:	n/a
14	chr7:8008421-8008471	HRE	kidney:	n/a
15	chr7:8008421-8008471	AoSMC	blood vessel:	n/a
16	chr7:8008421-8008471	AG09319	gingival:	n/a
17	chr7:8008421-8008471	HPAEpiC	pulmonary alveolar:	n/a
18	chr7:8008421-8008471	H1-hESC	embryonic stem cell:	embryo
19	chr7:8008421-8008471	ovcar-3	ovarian:	n/a
20	chr7:8008421-8008471	IMR90	lung:	fetal
21	chr7:8008421-8008471	MCF-7	breast:	n/a
22	chr7:8008421-8008471	HAEpiC	amniotic membrane:	n/a
23	chr7:8008421-8008471	PANC-1	pancreas:	n/a
24	chr7:8008421-8008471	HUVEC	blood vessel:	n/a
25	chr7:8008421-8008471	GM19239	blood:	n/a
26	chr7:8008421-8008471	GM06990	blood:	n/a
27	chr7:8008421-8008471	HEK293	kidney:	embryo
28	chr7:8008421-8008471	HL-60	blood:	n/a
29	chr7:8008421-8008471	NHDF-neo	bronchial:	n/a
30	chr7:8008421-8008471	MCF10A-Er-Src	breast:	n/a
31	chr7:8008421-8008471	Caco-2	colon:	n/a
32	chr7:8008421-8008471	RPTEC	kidney:	n/a
33	chr7:8008421-8008471	Hepatocyte	liver:	n/a
34	chr7:8008421-8008471	SK-N-MC	brain:	n/a
35	chr7:8008421-8008471	HNPCEpiC	eye:	n/a
36	chr7:8008421-8008471	NT2-D1	testis:	n/a
37	chr7:8008421-8008471	BE2_C	brain:	n/a
38	chr7:8008421-8008471	Jurkat	blood:	n/a
39	chr7:8008421-8008471	PFSK-1	brain:	n/a
40	chr7:8008421-8008471	HepG2	liver:	n/a
41	chr7:8008421-8008471	SKMC	muscle:	n/a
42	chr7:8008421-8008471	HRPEpiC	eye:	n/a
43	chr7:8008421-8008471	GM12892	blood:	n/a
44	chr7:8008421-8008471	AG04449	skin:	fetal
45	chr7:8008421-8008471	HEEpiC	esophagus:	n/a
46	chr7:8008421-8008471	A549	lung:	n/a
47	chr7:8008421-8008471	HMEC	breast:	n/a
48	chr7:8008421-8008471	GM12891	blood:	n/a
49	chr7:8008421-8008471	HIPEpiC	eye:	n/a
50	chr7:8008421-8008471	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:56405488..56406300-chr7:8008276..8009100,2	NB4	blood:
2	chr7:7947370..7958537-chr7:8006160..8010935,22	MCF-7	breast:
3	chr17:56709024..56709584-chr7:8008347..8008927,2	Hela-S3	cervix:
4	chr7:8008267..8011619-chr7:8256762..8258925,4	MCF-7	breast:
5	chr7:7809766..7812689-chr7:8007861..8010451,3	MCF-7	breast:
6	chr13:29233212..29233824-chr7:8008163..8009015,3	NB4	blood:
7	chr2:136287637..136288332-chr7:8007939..8008657,2	Hela-S3	cervix:
8	chr7:8008368..8010705-chr7:8301845..8303366,2	MCF-7	breast:
9	chr7:8006834..8014864-chr7:8015250..8023851,23	K562	blood:
10	chr7:8007277..8011687-chr7:8017849..8023164,7	MCF-7	breast:
11	chr7:8006704..8009086-chr7:8043010..8045321,2	MCF-7	breast:
12	chr7:7988942..7990791-chr7:8008442..8011147,2	K562	blood:
13	chr2:86850385..86850981-chr7:8007809..8008749,2	NB4	blood:

Variant related genes	Relation type
GLCCI1	TF binding region
GLCCI1	CpG island
ENSG00000003147	Chromatin interaction
ENSG00000233264	Chromatin interaction
ENSG00000239305	Chromatin interaction
ENSG00000121988	Chromatin interaction
ENSG00000219545	Chromatin interaction
ENSG00000106415	Chromatin interaction
ENSG00000234141	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000229970	Chromatin interaction
ENSG00000265148	Chromatin interaction
ENSG00000132963	Chromatin interaction
ENSG00000214998	Chromatin interaction
ENSG00000005379	Chromatin interaction
ENSG00000244239	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	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
2	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	59 gene(s)	inside rSNPs	diseases
3	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv3336693	chr7:8007427-8010075	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr7:8007000-8010200	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr7:8007200-8009400	Active TSS	Primary monocytes fromperipheralblood	blood
3	chr7:8007200-8010200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr7:8007200-8010400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:8007200-8010600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:8007200-8010600	Active TSS	Stomach Smooth Muscle	stomach
7	chr7:8007200-8012600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:8007200-8013400	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr7:8007400-8009800	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr7:8007400-8010200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:8007400-8010200	Active TSS	Colon Smooth Muscle	Colon
12	chr7:8007400-8010200	Active TSS	Fetal Lung	lung
13	chr7:8007400-8010200	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr7:8007400-8010200	Active TSS	Stomach Mucosa	stomach
15	chr7:8007400-8010400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr7:8007400-8010400	Active TSS	Fetal Kidney	kidney
17	chr7:8007400-8010400	Active TSS	NHDF-Ad	bronchial
18	chr7:8007400-8010600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr7:8007400-8010600	Active TSS	NHLF	lung
20	chr7:8007400-8010800	Active TSS	Primary T cells fromperipheralblood	blood
21	chr7:8007400-8010800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:8007400-8011800	Active TSS	Fetal Stomach	stomach
23	chr7:8007400-8012200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:8007400-8012200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:8007600-8008600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:8007600-8009600	Active TSS	Liver	Liver
27	chr7:8007600-8010200	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr7:8007600-8010200	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr7:8007600-8010200	Active TSS	Duodenum Mucosa	Duodenum
30	chr7:8007600-8010200	Active TSS	Fetal Brain Female	brain
31	chr7:8007600-8010200	Active TSS	Fetal Intestine Large	intestine
32	chr7:8007600-8010200	Active TSS	Fetal Muscle Leg	muscle
33	chr7:8007600-8010200	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr7:8007600-8010400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:8007600-8010400	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:8007600-8010400	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr7:8007600-8010400	Active TSS	HMEC	breast
38	chr7:8007600-8010600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:8007600-8010600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:8007600-8010600	Active TSS	Brain Angular Gyrus	brain
41	chr7:8007600-8010600	Active TSS	Brain Anterior Caudate	brain
42	chr7:8007600-8010600	Active TSS	Fetal Intestine Small	intestine
43	chr7:8007600-8010600	Active TSS	Psoas Muscle	Psoas
44	chr7:8007600-8010600	Active TSS	Right Ventricle	heart
45	chr7:8007600-8011200	Active TSS	Thymus	Thymus
46	chr7:8007600-8011400	Active TSS	GM12878-XiMat	blood
47	chr7:8007600-8011800	Active TSS	Colonic Mucosa	Colon
48	chr7:8007600-8012000	Active TSS	Aorta	Aorta
49	chr7:8007800-8009400	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr7:8007800-8010000	Active TSS	Pancreas	Pancrea

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