Variant report

Variant	rs544060922
Chromosome Location	chr7:6747153-6747154
allele	A/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	MAX	chr7:6745522-6747213	A549	lung:	n/a	chr7:6745893-6745902 chr7:6746006-6746013 chr7:6746619-6746629
2	GABPA	chr7:6745888-6747239	SK-N-SH	brain:	n/a	chr7:6746589-6746600 chr7:6746623-6746632 chr7:6746621-6746635 chr7:6746591-6746600 chr7:6746589-6746598 chr7:6746443-6746452 chr7:6746586-6746600 chr7:6746445-6746454 chr7:6746589-6746603 chr7:6746621-6746632
3	CBX3	chr7:6746385-6747206	K562	blood:	n/a	n/a
4	TBL1XR1	chr7:6746444-6747318	GM12878	blood:	n/a	n/a
5	HCFC1	chr7:6745791-6747280	Hela-S3	cervix:	n/a	n/a
6	GABPA	chr7:6746402-6747233	MCF-7	breast:	n/a	chr7:6746589-6746600 chr7:6746623-6746632 chr7:6746621-6746635 chr7:6746591-6746600 chr7:6746589-6746598 chr7:6746443-6746452 chr7:6746586-6746600 chr7:6746445-6746454 chr7:6746589-6746603 chr7:6746621-6746632
7	NRF1	chr7:6746197-6747407	SK-N-SH	brain:	n/a	chr7:6746589-6746600 chr7:6746623-6746632 chr7:6746621-6746635 chr7:6746591-6746600 chr7:6746620-6746631 chr7:6746589-6746598 chr7:6746443-6746452 chr7:6746588-6746599 chr7:6746586-6746600 chr7:6746445-6746454 chr7:6746589-6746603 chr7:6746621-6746632
8	PML	chr7:6746353-6747159	GM12878	blood:	n/a	n/a
9	REST	chr7:6745815-6747210	H1-neurons	neurons:	n/a	chr7:6746433-6746446
10	MAX	chr7:6745515-6747204	MCF-7	breast:	n/a	chr7:6745893-6745902 chr7:6746006-6746013 chr7:6746619-6746629
11	POLR2A	chr7:6745609-6747275	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6745224..6747442-chr7:6767898..6770902,3	MCF-7	breast:
2	chr7:6746161..6747688-chr7:6768318..6771249,2	MCF-7	breast:
3	chr7:6681243..6682856-chr7:6746246..6748831,2	K562	blood:
4	chr7:6729955..6731866-chr7:6746781..6748682,2	MCF-7	breast:
5	chr7:6675962..6678642-chr7:6744432..6748032,4	MCF-7	breast:
6	chr7:6744871..6747873-chr7:6767656..6771321,4	K562	blood:
7	chr2:179315296..179317868-chr7:6745682..6748008,2	MCF-7	breast:
8	chr7:6745463..6748475-chr7:6767656..6769994,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073343.1-1	chr7:6746704-6748672	NONHSAT119061

Variant related genes	Relation type
PMS2CL	TF binding region
ZNF12	TF binding region
ENSG00000180228	Chromatin interaction
ENSG00000205903	Chromatin interaction
ENSG00000265245	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000187953	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	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
8	esv1819001	chr7:6746810-6785602	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6744600-6747200	Active TSS	Right Ventricle	heart
2	chr7:6744800-6747200	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr7:6745000-6747200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:6745000-6747200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:6745000-6747200	Active TSS	Colonic Mucosa	Colon
6	chr7:6745000-6747200	Active TSS	Fetal Kidney	kidney
7	chr7:6745000-6747200	Active TSS	Ovary	ovary
8	chr7:6745000-6747200	Active TSS	Right Atrium	heart
9	chr7:6745000-6747400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:6745000-6747600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr7:6745200-6747200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr7:6745200-6747200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:6745200-6747200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:6745200-6747200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:6745200-6747200	Active TSS	Left Ventricle	heart
16	chr7:6745200-6747200	Active TSS	Psoas Muscle	Psoas
17	chr7:6745200-6747200	Active TSS	NHDF-Ad	bronchial
18	chr7:6745200-6747400	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr7:6745200-6747400	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr7:6745200-6747400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:6745400-6747200	Active TSS	Fetal Muscle Trunk	muscle
22	chr7:6745400-6747200	Active TSS	NHLF	lung
23	chr7:6745400-6747600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:6745600-6747200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr7:6745600-6747200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr7:6745600-6747200	Active TSS	Aorta	Aorta
27	chr7:6745600-6747400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:6745600-6747400	Active TSS	Colon Smooth Muscle	Colon
29	chr7:6745800-6747200	Active TSS	Placenta	Placenta
30	chr7:6745800-6747200	Active TSS	Pancreas	Pancrea
31	chr7:6745800-6747200	Active TSS	Placenta Amnion	Placenta Amnion
32	chr7:6745800-6747400	Active TSS	Brain Germinal Matrix	brain
33	chr7:6745800-6747400	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr7:6746000-6747200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr7:6746000-6747200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:6746000-6747400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:6746000-6747400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr7:6746200-6747200	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr7:6746200-6747400	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr7:6746600-6747200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr7:6746600-6747200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:6746600-6747200	Flanking Active TSS	HUVEC	blood vessel
43	chr7:6746600-6747400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:6746600-6747400	Active TSS	Fetal Brain Male	brain
45	chr7:6746800-6747200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr7:6746800-6747200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr7:6746800-6747200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr7:6746800-6747200	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr7:6746800-6747200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:6746800-6747200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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