Variant report

Variant	rs567078316
Chromosome Location	chr7:6745820-6745821
allele	C/G
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	MAX	chr7:6745522-6747213	A549	lung:	n/a	chr7:6745893-6745902 chr7:6746006-6746013 chr7:6746619-6746629
2	REST	chr7:6745629-6745869	Hela-S3	cervix:	n/a	n/a
3	HDAC2	chr7:6745538-6745835	K562	blood:	n/a	n/a
4	SMARCB1	chr7:6745707-6746778	Hela-S3	cervix:	n/a	n/a
5	REST	chr7:6745664-6745910	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:6745751-6746850	A549	lung:	n/a	n/a
7	CHD2	chr7:6745687-6746766	K562	blood:	n/a	n/a
8	MAZ	chr7:6745629-6746859	K562	blood:	n/a	chr7:6745893-6745902 chr7:6746006-6746013
9	POLR2A	chr7:6745565-6746896	GM12892	blood:	n/a	n/a
10	ZBTB7A	chr7:6745753-6745990	K562	blood:	n/a	n/a
11	POLR2A	chr7:6745518-6746272	Hela-S3	cervix:	n/a	n/a
12	TAL1	chr7:6745506-6745880	K562	blood:	n/a	n/a
13	REST	chr7:6745513-6745871	K562	blood:	n/a	n/a
14	MAX	chr7:6745761-6747114	GM12878	blood:	n/a	chr7:6745893-6745902 chr7:6746006-6746013 chr7:6746619-6746629
15	RUNX3	chr7:6745575-6746138	GM12878	blood:	n/a	n/a
16	WRNIP1	chr7:6745575-6746016	GM12878	blood:	n/a	n/a
17	CBX3	chr7:6745362-6746144	K562	blood:	n/a	n/a
18	POLR2A	chr7:6745642-6747029	PBDE	blood:	n/a	n/a
19	POLR2A	chr7:6745546-6746075	GM12878	blood:	n/a	n/a
20	HCFC1	chr7:6745580-6746138	K562	blood:	n/a	n/a
21	EGR1	chr7:6745487-6746021	K562	blood:	n/a	chr7:6745897-6745910 chr7:6745894-6745908 chr7:6745897-6745910 chr7:6745898-6745907 chr7:6745898-6745909
22	HEY1	chr7:6745515-6746200	K562	blood:	n/a	chr7:6746013-6746022 chr7:6746011-6746020
23	MXI1	chr7:6745673-6746184	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr7:6745599-6746199	GM12891	blood:	n/a	n/a
25	MYC	chr7:6745800-6745826	HUVEC	blood vessel:	n/a	n/a
26	MXI1	chr7:6745611-6745864	K562	blood:	n/a	n/a
27	ELF1	chr7:6745750-6746916	GM12878	blood:	n/a	chr7:6746336-6746345 chr7:6746274-6746286 chr7:6746636-6746649 chr7:6746577-6746589
28	POLR2A	chr7:6745806-6745887	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr7:6745602-6746952	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr7:6745571-6746873	K562	blood:	n/a	n/a
31	TRIM28	chr7:6745354-6745958	K562	blood:	n/a	n/a
32	HCFC1	chr7:6745791-6747280	Hela-S3	cervix:	n/a	n/a
33	EGR1	chr7:6745451-6746045	K562	blood:	n/a	chr7:6745897-6745910 chr7:6745894-6745908 chr7:6745897-6745910 chr7:6745898-6745907 chr7:6745898-6745909
34	TEAD4	chr7:6745443-6745881	K562	blood:	n/a	n/a
35	MAFK	chr7:6745814-6745839	Hela-S3	cervix:	n/a	n/a
36	MAFK	chr7:6745621-6745871	HepG2	liver:	n/a	chr7:6745756-6745770
37	MXI1	chr7:6745566-6747101	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:6745740-6746110	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr7:6745663-6746943	HepG2	liver:	n/a	n/a
40	POLR2A	chr7:6745809-6747139	SK-N-MC	brain:	n/a	n/a
41	MAX	chr7:6745630-6747026	Hela-S3	cervix:	n/a	chr7:6745893-6745902 chr7:6746006-6746013 chr7:6746619-6746629
42	POLR2A	chr7:6745707-6746836	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:6745539-6746938	MCF10A-Er-Src	breast:	n/a	n/a
44	TBL1XR1	chr7:6745642-6745842	K562	blood:	n/a	n/a
45	SIN3A	chr7:6745780-6745986	GM12878	blood:	n/a	n/a
46	POLR2A	chr7:6745587-6746901	Hela-S3	cervix:	n/a	n/a
47	RUNX3	chr7:6745455-6746199	GM12878	blood:	n/a	n/a
48	E2F6	chr7:6745570-6746947	K562	blood:	n/a	chr7:6746445-6746454 chr7:6746622-6746631 chr7:6746590-6746599 chr7:6746662-6746672 chr7:6746469-6746484
49	RCOR1	chr7:6745569-6745854	K562	blood:	n/a	n/a
50	POLR2A	chr7:6745461-6745917	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6745224..6747442-chr7:6767898..6770902,3	MCF-7	breast:
2	chr7:6675962..6678642-chr7:6744432..6748032,4	MCF-7	breast:
3	chr7:6744871..6747873-chr7:6767656..6771321,4	K562	blood:
4	chr7:6700299..6703221-chr7:6744305..6746051,2	MCF-7	breast:
5	chr2:179315296..179317868-chr7:6745682..6748008,2	MCF-7	breast:
6	chr17:59484738..59486572-chr7:6745021..6746847,2	MCF-7	breast:
7	chr7:6628194..6631157-chr7:6744707..6746398,2	MCF-7	breast:
8	chr7:6676193..6679067-chr7:6744810..6746794,4	K562	blood:
9	chr7:6745463..6748475-chr7:6767656..6769994,3	K562	blood:

Variant related genes	Relation type
PMS2CL	TF binding region
ENSG00000187953	Chromatin interaction
ENSG00000205903	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000232581	Chromatin interaction
ENSG00000180228	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	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
3	nsv887439	chr7:6736332-6791749	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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	17 gene(s)	inside rSNPs	diseases
4	nsv1015646	chr7:6738483-6779270	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv887440	chr7:6743097-6820508	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv8038	chr7:6744717-6748111	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr7:6744400-6746000	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr7:6744400-6746200	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr7:6744600-6747200	Active TSS	Right Ventricle	heart
4	chr7:6744800-6746000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:6744800-6746800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:6744800-6747200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr7:6745000-6746000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:6745000-6746000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr7:6745000-6746200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr7:6745000-6746800	Active TSS	Stomach Mucosa	stomach
11	chr7:6745000-6746800	Active TSS	GM12878-XiMat	blood
12	chr7:6745000-6746800	Active TSS	HMEC	breast
13	chr7:6745000-6747000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:6745000-6747000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr7:6745000-6747000	Active TSS	Fetal Intestine Large	intestine
16	chr7:6745000-6747000	Active TSS	Stomach Smooth Muscle	stomach
17	chr7:6745000-6747200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:6745000-6747200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:6745000-6747200	Active TSS	Colonic Mucosa	Colon
20	chr7:6745000-6747200	Active TSS	Fetal Kidney	kidney
21	chr7:6745000-6747200	Active TSS	Ovary	ovary
22	chr7:6745000-6747200	Active TSS	Right Atrium	heart
23	chr7:6745000-6747400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:6745000-6747600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:6745200-6746000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr7:6745200-6746000	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr7:6745200-6746200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr7:6745200-6746200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr7:6745200-6746200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:6745200-6746800	Active TSS	Rectal Smooth Muscle	rectum
31	chr7:6745200-6746800	Active TSS	Hela-S3	cervix
32	chr7:6745200-6746800	Active TSS	HSMM	muscle
33	chr7:6745200-6746800	Active TSS	K562	blood
34	chr7:6745200-6747000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:6745200-6747000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:6745200-6747000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr7:6745200-6747000	Active TSS	A549	lung
38	chr7:6745200-6747200	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr7:6745200-6747200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:6745200-6747200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr7:6745200-6747200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:6745200-6747200	Active TSS	Left Ventricle	heart
43	chr7:6745200-6747200	Active TSS	Psoas Muscle	Psoas
44	chr7:6745200-6747200	Active TSS	NHDF-Ad	bronchial
45	chr7:6745200-6747400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr7:6745200-6747400	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr7:6745200-6747400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:6745400-6746000	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr7:6745400-6746000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr7:6745400-6746000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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