Variant report

Variant	rs189678488
Chromosome Location	chr7:7802389-7802390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7799254..7806715-chr7:8006933..8010615,16	MCF-7	breast:
2	chr7:7676930..7679384-chr7:7801269..7803491,2	K562	blood:
3	chr7:7801447..7806278-chr7:7806624..7810119,5	K562	blood:
4	chr7:7800202..7802589-chr7:7949193..7951312,2	MCF-7	breast:
5	chr7:7800268..7802806-chr7:7819669..7821232,2	MCF-7	breast:
6	chr7:7797784..7800266-chr7:7801880..7803874,2	K562	blood:
7	chr7:7799672..7804877-chr7:8006535..8011034,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106415	Chromatin interaction
ENSG00000106399	Chromatin interaction
ENSG00000214998	Chromatin interaction
ENSG00000233108	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv887487	chr7:7740914-7802561	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv887489	chr7:7770203-7913311	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv1027770	chr7:7797431-7957507	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv538722	chr7:7797431-7957507	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv887490	chr7:7801684-7908970	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7801200-7802400	Active TSS	Primary monocytes fromperipheralblood	blood
2	chr7:7801200-7802400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr7:7801200-7802600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:7801200-7802600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr7:7801200-7802600	Active TSS	Right Atrium	heart
6	chr7:7801200-7802600	Flanking Active TSS	Dnd41	blood
7	chr7:7801400-7802400	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr7:7801400-7802400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:7801400-7802400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr7:7801400-7802400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:7801400-7802400	Flanking Active TSS	Liver	Liver
12	chr7:7801400-7802400	Active TSS	Colonic Mucosa	Colon
13	chr7:7801400-7802400	Active TSS	Left Ventricle	heart
14	chr7:7801400-7802400	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr7:7801400-7802400	Flanking Active TSS	NHEK	skin
16	chr7:7801400-7802600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr7:7801400-7802600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:7801400-7802600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr7:7801400-7802600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:7801400-7802600	Active TSS	Aorta	Aorta
21	chr7:7801400-7802600	Active TSS	Brain Anterior Caudate	brain
22	chr7:7801400-7802600	Active TSS	Colon Smooth Muscle	Colon
23	chr7:7801400-7802600	Enhancers	Fetal Heart	heart
24	chr7:7801400-7802600	Active TSS	NHLF	lung
25	chr7:7801400-7804200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:7801600-7802400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:7801600-7802400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:7801600-7802400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr7:7801600-7802400	Active TSS	Placenta	Placenta
30	chr7:7801600-7802400	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr7:7801600-7802400	Active TSS	Small Intestine	intestine
32	chr7:7801600-7802400	Active TSS	Stomach Mucosa	stomach
33	chr7:7801600-7802400	Enhancers	HepG2	liver
34	chr7:7801600-7802400	Flanking Active TSS	HMEC	breast
35	chr7:7801600-7802600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:7801600-7802600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr7:7801600-7802600	Active TSS	Stomach Smooth Muscle	stomach
38	chr7:7801600-7802600	Active TSS	Thymus	Thymus
39	chr7:7801600-7802600	Active TSS	Osteobl	bone
40	chr7:7801800-7802400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:7801800-7802400	Active TSS	Primary T cells fromperipheralblood	blood
42	chr7:7801800-7802400	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr7:7801800-7802400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:7801800-7802400	Active TSS	Duodenum Mucosa	Duodenum
45	chr7:7801800-7802400	Active TSS	Esophagus	oesophagus
46	chr7:7801800-7802400	Active TSS	Fetal Intestine Large	intestine
47	chr7:7801800-7802400	Active TSS	Fetal Kidney	kidney
48	chr7:7801800-7802400	Active TSS	Fetal Lung	lung
49	chr7:7801800-7802400	Active TSS	Fetal Stomach	stomach
50	chr7:7801800-7802400	Active TSS	HSMM	muscle

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