Variant report

Variant	rs544466054
Chromosome Location	chr7:6628929-6628930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:6628828-6630384	Hela-S3	cervix:	n/a	n/a
2	SMC3	chr7:6628384-6630980	SK-N-SH	brain:	n/a	chr7:6629569-6629583 chr7:6629723-6629733 chr7:6629772-6629782 chr7:6629573-6629583 chr7:6629689-6629699
3	POLR2A	chr7:6628744-6630402	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr7:6628860-6629010	GM12872	blood:	n/a	n/a
5	PML	chr7:6628882-6630088	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:6628740-6630557	HepG2	liver:	n/a	n/a
7	STAT3	chr7:6628793-6628984	MCF10A-Er-Src	breast:	n/a	n/a
8	MXI1	chr7:6628319-6630830	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr7:6628150-6630335	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6523102..6525727-chr7:6628447..6631086,2	MCF-7	breast:
2	chr7:6621445..6626175-chr7:6626576..6631235,7	MCF-7	breast:
3	chr7:6614342..6622557-chr7:6625132..6631922,18	K562	blood:
4	chr7:6615687..6618664-chr7:6627812..6632591,8	MCF-7	breast:
5	chr7:6627960..6631587-chr7:6636185..6643600,9	MCF-7	breast:
6	chr7:6628303..6631132-chr7:6637511..6639950,2	K562	blood:
7	chr7:6627001..6634994-chr7:6673643..6681623,15	MCF-7	breast:
8	chr7:6628726..6630315-chr7:6654459..6656349,2	MCF-7	breast:
9	chr7:6628194..6631157-chr7:6744707..6746398,2	MCF-7	breast:
10	chr7:6628215..6631115-chr7:6675239..6679126,9	MCF-7	breast:
11	chr7:6523333..6525416-chr7:6628158..6630053,2	K562	blood:
12	chr7:6626891..6631454-chr7:6676260..6679154,6	K562	blood:
13	chr7:6628238..6630542-chr7:6653702..6656593,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232581	TF binding region
C7orf26	TF binding region
ENSG00000236609	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000136247	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000164631	Chromatin interaction
ENSG00000205903	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 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	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
4	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	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
6	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv508444	chr7:6534110-6700527	Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv887431	chr7:6535517-6690240	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv515978	chr7:6535517-6698905	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
15	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	nsv887433	chr7:6557135-6668027	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
18	nsv606001	chr7:6563109-6683454	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
19	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
20	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
21	nsv824002	chr7:6618087-6716961	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv824003	chr7:6620920-6721409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv887436	chr7:6626922-6721661	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	esv1797143	chr7:6628177-6705439	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	nsv606003	chr7:6628242-6713985	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
26	esv3381818	chr7:6628877-6630925	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr7:6617600-6629200	Weak transcription	Small Intestine	intestine
2	chr7:6617600-6629600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:6617600-6629800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:6617600-6630000	Weak transcription	Stomach Mucosa	stomach
5	chr7:6617800-6629000	Weak transcription	Right Atrium	heart
6	chr7:6617800-6629200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:6618200-6629000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:6618200-6629000	Strong transcription	Brain Cingulate Gyrus	brain
9	chr7:6618200-6629200	Strong transcription	Fetal Intestine Small	intestine
10	chr7:6618400-6629000	Strong transcription	Fetal Muscle Leg	muscle
11	chr7:6618400-6629000	Strong transcription	Fetal Thymus	thymus
12	chr7:6618600-6629000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:6618600-6629000	Strong transcription	Fetal Stomach	stomach
14	chr7:6618800-6629000	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:6619200-6629000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:6619200-6629000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:6619600-6629000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:6619800-6629000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:6620000-6629000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:6620000-6629000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:6620000-6629000	Strong transcription	Placenta	Placenta
22	chr7:6620000-6629200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:6620200-6629000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:6620200-6629200	Weak transcription	HSMM	muscle
25	chr7:6620800-6629000	Strong transcription	Dnd41	blood
26	chr7:6621800-6629000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:6622400-6629000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr7:6623400-6629000	Weak transcription	GM12878-XiMat	blood
29	chr7:6623400-6629200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:6623400-6629200	Weak transcription	Psoas Muscle	Psoas
31	chr7:6623400-6629200	Weak transcription	HMEC	breast
32	chr7:6623600-6629000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:6623600-6629000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:6623600-6629000	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:6624600-6629000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:6624600-6629200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:6624800-6629000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:6624800-6629000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:6624800-6629200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:6624800-6629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:6624800-6629200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:6624800-6629200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:6624800-6629200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:6624800-6629600	Weak transcription	Aorta	Aorta
45	chr7:6625000-6629000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:6625000-6629000	Weak transcription	Gastric	stomach
47	chr7:6625000-6629200	Weak transcription	HUVEC	blood vessel
48	chr7:6625000-6629800	Weak transcription	Fetal Kidney	kidney
49	chr7:6625000-6629800	Weak transcription	NHDF-Ad	bronchial
50	chr7:6625200-6629000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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