Variant report

Variant	rs7580748
Chromosome Location	chr2:97545641-97545642
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
2	chr1:108887735..108889894-chr2:97545432..97548106,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252845	Chromatin interaction
ENSG00000168754	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10187735	1.00[CHD][hapmap]
rs10188136	1.00[CHD][hapmap]
rs36121810	0.89[MKK][hapmap]
rs6730985	0.90[MKK][hapmap]
rs7340461	1.00[CHD][hapmap]
rs7565577	1.00[CHD][hapmap]
rs7581456	1.00[CHD][hapmap]
rs7589082	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97536800-97546200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:97536800-97551800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:97536800-97555200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:97538400-97547400	Enhancers	Spleen	Spleen
5	chr2:97539400-97546800	Weak transcription	Lung	lung
6	chr2:97540000-97548000	Weak transcription	Right Atrium	heart
7	chr2:97540200-97549800	Weak transcription	Liver	Liver
8	chr2:97540800-97552200	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:97541000-97546800	Weak transcription	Right Ventricle	heart
10	chr2:97541000-97547400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:97541800-97546800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:97541800-97547000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:97541800-97547600	Weak transcription	Fetal Kidney	kidney
14	chr2:97542200-97553000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:97542400-97546600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:97542400-97547200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:97542600-97546800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:97542600-97546800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:97542800-97546800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:97542800-97548000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:97542800-97557400	Enhancers	Placenta	Placenta
22	chr2:97543000-97547000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:97543200-97546600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:97543200-97546800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:97543800-97547000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:97543800-97547000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:97543800-97547000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:97543800-97547000	Weak transcription	GM12878-XiMat	blood
29	chr2:97543800-97547400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:97543800-97547800	Weak transcription	HMEC	breast
31	chr2:97544000-97545800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr2:97544000-97546000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:97544000-97546800	Weak transcription	Fetal Lung	lung
34	chr2:97544200-97547200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:97544400-97546800	Weak transcription	Fetal Stomach	stomach
36	chr2:97544400-97547000	Weak transcription	Brain Germinal Matrix	brain
37	chr2:97544400-97547200	Weak transcription	Esophagus	oesophagus
38	chr2:97544600-97545800	Enhancers	Fetal Muscle Leg	muscle
39	chr2:97544600-97545800	Weak transcription	K562	blood
40	chr2:97544600-97546000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:97544600-97547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:97544600-97547200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:97544600-97550800	Weak transcription	Brain Angular Gyrus	brain
44	chr2:97544600-97550800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:97544600-97551800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:97544800-97547000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:97544800-97547000	Weak transcription	Brain Anterior Caudate	brain
48	chr2:97544800-97549800	Weak transcription	Brain Substantia Nigra	brain
49	chr2:97544800-97550800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:97545000-97545800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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