Variant report

Variant	rs549968309
Chromosome Location	chr7:6744920-6744921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6744915-6744985	HepG2	liver:	n/a	n/a
2	WRNIP1	chr7:6744838-6745105	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:6744775-6745090	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6736883..6740896-chr7:6741673..6744991,4	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	chr7:6628194..6631157-chr7:6744707..6746398,2	MCF-7	breast:
6	chr7:6676193..6679067-chr7:6744810..6746794,4	K562	blood:
7	chr7:6743479..6745149-chr7:6745557..6748493,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF12	TF binding region
PMS2CL	TF binding region
ENSG00000164631	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000205903	Chromatin interaction
ENSG00000187953	Chromatin interaction
ENSG00000232581	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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6721400-6745200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr7:6721600-6745400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:6722400-6745000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
4	chr7:6722600-6745000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:6723600-6745000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:6723600-6745400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:6723800-6745000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:6725800-6745000	ZNF genes & repeats	NH-A	brain
9	chr7:6726000-6745000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:6726000-6745000	ZNF genes & repeats	Fetal Muscle Leg	muscle
11	chr7:6726000-6745200	ZNF genes & repeats	A549	lung
12	chr7:6726200-6745000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr7:6726200-6745000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr7:6726200-6745000	ZNF genes & repeats	Fetal Lung	lung
15	chr7:6726600-6745000	ZNF genes & repeats	GM12878-XiMat	blood
16	chr7:6730800-6745000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:6731200-6745400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:6733200-6745200	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr7:6739400-6745600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:6739600-6745400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:6740200-6745200	ZNF genes & repeats	K562	blood
22	chr7:6740600-6745200	ZNF genes & repeats	HSMM	muscle
23	chr7:6741000-6745000	ZNF genes & repeats	Fetal Intestine Large	intestine
24	chr7:6741800-6745000	ZNF genes & repeats	Osteobl	bone
25	chr7:6742000-6745000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr7:6742000-6745600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:6742800-6745000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr7:6742800-6745200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:6743600-6745200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:6743800-6745000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr7:6743800-6745600	Weak transcription	Aorta	Aorta
32	chr7:6744000-6745400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:6744000-6745400	Weak transcription	HSMMtube	muscle
34	chr7:6744400-6745000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
35	chr7:6744400-6745000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
36	chr7:6744400-6745000	ZNF genes & repeats	NHDF-Ad	bronchial
37	chr7:6744400-6745200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:6744400-6745400	Enhancers	Adipose Nuclei	Adipose
39	chr7:6744400-6746000	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr7:6744400-6746200	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr7:6744600-6745000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:6744600-6745000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:6744600-6745000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
44	chr7:6744600-6745000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
45	chr7:6744600-6745000	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:6744600-6745000	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr7:6744600-6745000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
48	chr7:6744600-6745000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr7:6744600-6745000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
50	chr7:6744600-6745000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood

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