Variant report

Variant	rs550936022
Chromosome Location	chr7:6745707-6745708
allele	A/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	CHD2	chr7:6745687-6746766	K562	blood:	n/a	n/a
7	BATF	chr7:6745480-6745720	GM12878	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	POLR2A	chr7:6745518-6746272	Hela-S3	cervix:	n/a	n/a
11	TAL1	chr7:6745506-6745880	K562	blood:	n/a	n/a
12	REST	chr7:6745513-6745871	K562	blood:	n/a	n/a
13	RUNX3	chr7:6745575-6746138	GM12878	blood:	n/a	n/a
14	EP300	chr7:6745476-6745794	GM12878	blood:	n/a	n/a
15	ZNF143	chr7:6745624-6745784	K562	blood:	n/a	n/a
16	WRNIP1	chr7:6745575-6746016	GM12878	blood:	n/a	n/a
17	GTF2F1	chr7:6745528-6745719	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr7:6745362-6746144	K562	blood:	n/a	n/a
19	POLR2A	chr7:6745642-6747029	PBDE	blood:	n/a	n/a
20	POLR2A	chr7:6745546-6746075	GM12878	blood:	n/a	n/a
21	RAD21	chr7:6745696-6745792	HepG2	liver:	n/a	n/a
22	HCFC1	chr7:6745580-6746138	K562	blood:	n/a	n/a
23	EGR1	chr7:6745487-6746021	K562	blood:	n/a	chr7:6745897-6745910 chr7:6745894-6745908 chr7:6745897-6745910 chr7:6745898-6745907 chr7:6745898-6745909
24	HEY1	chr7:6745515-6746200	K562	blood:	n/a	chr7:6746013-6746022 chr7:6746011-6746020
25	MXI1	chr7:6745673-6746184	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr7:6745599-6746199	GM12891	blood:	n/a	n/a
27	MXI1	chr7:6745611-6745864	K562	blood:	n/a	n/a
28	POLR2A	chr7:6745602-6746952	Hela-S3	cervix:	n/a	n/a
29	EP300	chr7:6745553-6745762	K562	blood:	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	EGR1	chr7:6745451-6746045	K562	blood:	n/a	chr7:6745897-6745910 chr7:6745894-6745908 chr7:6745897-6745910 chr7:6745898-6745907 chr7:6745898-6745909
33	TEAD4	chr7:6745443-6745881	K562	blood:	n/a	n/a
34	TBL1XR1	chr7:6745480-6745818	K562	blood:	n/a	n/a
35	MAFK	chr7:6745621-6745871	HepG2	liver:	n/a	chr7:6745756-6745770
36	MXI1	chr7:6745566-6747101	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:6745663-6746943	HepG2	liver:	n/a	n/a
38	MAX	chr7:6745630-6747026	Hela-S3	cervix:	n/a	chr7:6745893-6745902 chr7:6746006-6746013 chr7:6746619-6746629
39	POLR2A	chr7:6745707-6746836	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:6745539-6746938	MCF10A-Er-Src	breast:	n/a	n/a
41	TBL1XR1	chr7:6745642-6745842	K562	blood:	n/a	n/a
42	POLR2A	chr7:6745587-6746901	Hela-S3	cervix:	n/a	n/a
43	RUNX3	chr7:6745455-6746199	GM12878	blood:	n/a	n/a
44	E2F6	chr7:6745570-6746947	K562	blood:	n/a	chr7:6746445-6746454 chr7:6746622-6746631 chr7:6746590-6746599 chr7:6746662-6746672 chr7:6746469-6746484
45	RCOR1	chr7:6745569-6745854	K562	blood:	n/a	n/a
46	POLR2A	chr7:6745461-6745917	K562	blood:	n/a	n/a
47	JUND	chr7:6745593-6745836	K562	blood:	n/a	n/a
48	MAX	chr7:6745550-6745859	K562	blood:	n/a	n/a
49	MAX	chr7:6745604-6747147	NB4	blood:	n/a	chr7:6745893-6745902 chr7:6746006-6746013 chr7:6746619-6746629
50	POLR2A	chr7:6745477-6747048	GM12878	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
ENSG00000121068	Chromatin interaction
ENSG00000232581	Chromatin interaction
ENSG00000187953	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000205903	Chromatin interaction
ENSG00000180228	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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	chr7:6744600-6745800	Flanking Active TSS	Brain Cingulate Gyrus	brain
4	chr7:6744600-6747200	Active TSS	Right Ventricle	heart
5	chr7:6744800-6745800	Flanking Active TSS	Brain Angular Gyrus	brain
6	chr7:6744800-6745800	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr7:6744800-6745800	Flanking Active TSS	Brain Substantia Nigra	brain
8	chr7:6744800-6745800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr7:6744800-6746000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:6744800-6746800	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr7:6744800-6747200	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr7:6745000-6745800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr7:6745000-6745800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:6745000-6745800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr7:6745000-6745800	Flanking Active TSS	Thymus	Thymus
16	chr7:6745000-6746000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:6745000-6746000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:6745000-6746200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr7:6745000-6746800	Active TSS	Stomach Mucosa	stomach
20	chr7:6745000-6746800	Active TSS	GM12878-XiMat	blood
21	chr7:6745000-6746800	Active TSS	HMEC	breast
22	chr7:6745000-6747000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:6745000-6747000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:6745000-6747000	Active TSS	Fetal Intestine Large	intestine
25	chr7:6745000-6747000	Active TSS	Stomach Smooth Muscle	stomach
26	chr7:6745000-6747200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:6745000-6747200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:6745000-6747200	Active TSS	Colonic Mucosa	Colon
29	chr7:6745000-6747200	Active TSS	Fetal Kidney	kidney
30	chr7:6745000-6747200	Active TSS	Ovary	ovary
31	chr7:6745000-6747200	Active TSS	Right Atrium	heart
32	chr7:6745000-6747400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:6745000-6747600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr7:6745200-6745800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr7:6745200-6745800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:6745200-6745800	Flanking Active TSS	Liver	Liver
37	chr7:6745200-6745800	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr7:6745200-6746000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr7:6745200-6746000	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr7:6745200-6746200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr7:6745200-6746200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr7:6745200-6746200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:6745200-6746800	Active TSS	Rectal Smooth Muscle	rectum
44	chr7:6745200-6746800	Active TSS	Hela-S3	cervix
45	chr7:6745200-6746800	Active TSS	HSMM	muscle
46	chr7:6745200-6746800	Active TSS	K562	blood
47	chr7:6745200-6747000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:6745200-6747000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:6745200-6747000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr7:6745200-6747000	Active TSS	A549	lung

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