Variant report

Variant	rs6975478
Chromosome Location	chr7:8199847-8199848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:8194025..8195695-chr7:8198512..8200242,2	K562	blood:
2	chr7:8189916..8192484-chr7:8199081..8201133,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265212	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10224158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12702700	0.82[EUR][1000 genomes]
rs13311898	0.82[EUR][1000 genomes]
rs2058515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4725073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6463776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6957293	1.00[AMR][1000 genomes]
rs6971033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7788500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7804887	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active 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 target site	23 gene(s)	inside rSNPs	diseases
4	nsv949024	chr7:8176301-8522495	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1031226	chr7:8176311-8569811	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv538724	chr7:8176311-8569811	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv887492	chr7:8177689-8513927	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv1026247	chr7:8178837-8527868	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv464305	chr7:8179655-8524707	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv606050	chr7:8179655-8524707	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv1020942	chr7:8179655-8524774	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv464307	chr7:8179846-8453313	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv606051	chr7:8179846-8453313	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
14	nsv1034583	chr7:8180210-8527868	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	nsv1030373	chr7:8184961-8527868	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv949082	chr7:8189594-8494386	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv948997	chr7:8189594-8522495	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8150600-8200000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:8172400-8215800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:8176400-8200600	Weak transcription	K562	blood
4	chr7:8181200-8201200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:8181400-8200000	Weak transcription	Fetal Intestine Small	intestine
6	chr7:8186800-8208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:8187000-8201000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:8187200-8200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:8187600-8200600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:8188000-8200000	Weak transcription	Fetal Heart	heart
11	chr7:8189600-8200600	Weak transcription	HUVEC	blood vessel
12	chr7:8190600-8214000	Weak transcription	Primary B cells from cord blood	blood
13	chr7:8191200-8200600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:8192400-8201000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:8192400-8217800	Weak transcription	Psoas Muscle	Psoas
16	chr7:8192400-8226600	Weak transcription	Fetal Stomach	stomach
17	chr7:8192600-8200600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:8192600-8201200	Weak transcription	Lung	lung
19	chr7:8192600-8201200	Weak transcription	Spleen	Spleen
20	chr7:8192600-8203200	Weak transcription	Right Ventricle	heart
21	chr7:8192600-8207400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:8192800-8205200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:8192800-8241400	Weak transcription	Pancreas	Pancrea
24	chr7:8194200-8200000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:8194800-8214600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:8196000-8201400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:8196200-8215400	Weak transcription	Fetal Intestine Large	intestine
28	chr7:8196400-8201200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:8196600-8200000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:8196600-8201000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:8196800-8200000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:8197200-8200000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:8197200-8214400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:8197400-8200000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:8198000-8200400	Weak transcription	Left Ventricle	heart
36	chr7:8198000-8200800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:8198000-8201000	Weak transcription	Gastric	stomach
38	chr7:8198000-8213600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:8199000-8201400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:8199600-8200600	Weak transcription	Brain Angular Gyrus	brain
41	chr7:8199800-8208200	Weak transcription	Adipose Nuclei	Adipose

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