Variant report

Variant	rs544247622
Chromosome Location	chr7:97983097-97983098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:97973522..97975312-chr7:97980531..97983134,2	MCF-7	breast:
2	chr7:97924619..97926300-chr7:97982191..97983995,2	MCF-7	breast:
3	chr7:97981229..97983769-chr7:97985673..97988919,4	MCF-7	breast:
4	chr7:97982441..97984105-chr7:98028330..98030709,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006453	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
11	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv888766	chr7:97975542-98123880	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
13	esv3335926	chr7:97981816-97984014	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3401009	chr7:97982316-97983614	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97944800-97983400	Weak transcription	HepG2	liver
2	chr7:97953800-97989800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:97954400-97983800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:97966800-97983800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:97968400-97983600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:97972400-97983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:97973000-97987000	Weak transcription	Liver	Liver
8	chr7:97973000-97989600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:97973200-97984000	Weak transcription	Pancreas	Pancrea
10	chr7:97973200-97989600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:97973600-97983400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:97977200-98010200	Weak transcription	GM12878-XiMat	blood
13	chr7:97978000-97985200	Enhancers	Placenta	Placenta
14	chr7:97978400-97983400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:97978400-97983400	Weak transcription	Esophagus	oesophagus
16	chr7:97978600-97983800	Weak transcription	Lung	lung
17	chr7:97979400-97989600	Weak transcription	K562	blood
18	chr7:97979800-97983400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:97980000-97983400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:97981000-97983400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:97981000-97988600	Weak transcription	Fetal Stomach	stomach
22	chr7:97981200-97983600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:97981200-97983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:97981200-97983600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:97981200-97983800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:97981400-97983400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:97981800-97984800	Enhancers	Colonic Mucosa	Colon
28	chr7:97982400-97983400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:97982400-97983400	Weak transcription	HUVEC	blood vessel
30	chr7:97982600-97983400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:97982600-97983400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:97982600-97983400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:97982600-97983400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:97982600-97983400	Weak transcription	Fetal Intestine Small	intestine
35	chr7:97982600-97983400	Weak transcription	NHEK	skin
36	chr7:97982600-97984000	Weak transcription	Gastric	stomach
37	chr7:97982600-97989800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:97982600-97995600	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:97982800-97983200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:97982800-97983200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:97982800-97983200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:97982800-97983200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:97982800-97983200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:97982800-97983200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:97982800-97983200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:97982800-97983200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:97982800-97983200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:97982800-97983200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr7:97982800-97983200	Weak transcription	Fetal Intestine Large	intestine
50	chr7:97982800-97983200	Weak transcription	Rectal Mucosa Donor 29	rectum

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