Variant report

Variant	rs6968308
Chromosome Location	chr7:97820887-97820888
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	chr7:97819575..97821759-chr7:97879894..97882322,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164713	Chromatin interaction
ENSG00000205356	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11972730	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11975025	1.00[AFR][1000 genomes]
rs34781815	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57722543	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710340	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710376	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710381	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7801333	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription 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	10 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97763400-97821000	Weak transcription	NHLF	lung
2	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:97772400-97821600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:97782400-97822000	Weak transcription	Fetal Kidney	kidney
5	chr7:97782400-97839800	Weak transcription	Fetal Brain Male	brain
6	chr7:97787400-97822000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:97789200-97829400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:97793200-97822400	Weak transcription	Small Intestine	intestine
9	chr7:97793400-97841000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:97801200-97821000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:97804400-97821000	Weak transcription	Hela-S3	cervix
12	chr7:97804400-97821200	Weak transcription	A549	lung
13	chr7:97804600-97821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:97808400-97833600	Weak transcription	Stomach Mucosa	stomach
15	chr7:97808600-97839800	Weak transcription	Right Atrium	heart
16	chr7:97808800-97821000	Weak transcription	Right Ventricle	heart
17	chr7:97808800-97821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:97809200-97821000	Weak transcription	Brain Anterior Caudate	brain
19	chr7:97809200-97821000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:97809200-97821000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:97809200-97823600	Weak transcription	HMEC	breast
22	chr7:97809400-97821000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:97809400-97821200	Weak transcription	Brain Substantia Nigra	brain
24	chr7:97809600-97821200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:97812000-97841000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:97812800-97826800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr7:97813800-97825400	Strong transcription	HepG2	liver
28	chr7:97814400-97827400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:97814800-97825200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:97815000-97826200	Strong transcription	Liver	Liver
31	chr7:97815000-97827000	Strong transcription	Fetal Intestine Large	intestine
32	chr7:97815600-97826400	Strong transcription	Primary T cells from cord blood	blood
33	chr7:97815600-97827600	Strong transcription	Fetal Intestine Small	intestine
34	chr7:97815800-97822800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:97815800-97826600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:97815800-97827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:97816000-97839200	Weak transcription	Psoas Muscle	Psoas
38	chr7:97816200-97821000	Weak transcription	HSMMtube	muscle
39	chr7:97816200-97825000	Weak transcription	HSMM	muscle
40	chr7:97816400-97825200	Strong transcription	Fetal Thymus	thymus
41	chr7:97816400-97827400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:97816600-97821000	Weak transcription	NHEK	skin
43	chr7:97816600-97821400	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:97816600-97822200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:97816600-97839800	Weak transcription	NH-A	brain
46	chr7:97816800-97821000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:97816800-97822200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:97816800-97823800	Weak transcription	Osteobl	bone
49	chr7:97816800-97825200	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:97816800-97825800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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