Variant report

Variant	rs6971940
Chromosome Location	chr7:5688895-5688896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5568731..5570253-chr7:5686699..5689101,2	K562	blood:
2	chr7:5687349..5689496-chr7:5690114..5692941,3	K562	blood:
3	chr7:5680737..5684059-chr7:5686375..5688909,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075624	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11984395	1.00[AMR][1000 genomes]
rs35001382	1.00[AMR][1000 genomes]
rs6974201	1.00[AMR][1000 genomes]
rs6974691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338062	1.00[AMR][1000 genomes]
rs73338064	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
7	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
8	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
9	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
10	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
11	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh 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	357 gene(s)	inside rSNPs	diseases
12	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
13	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
15	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
16	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
18	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:5674800-5693600	Strong transcription	Dnd41	blood
3	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine
4	chr7:5675400-5689400	Weak transcription	Psoas Muscle	Psoas
5	chr7:5676000-5693800	Strong transcription	Fetal Intestine Small	intestine
6	chr7:5676200-5689000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:5677000-5689200	Weak transcription	Ovary	ovary
8	chr7:5677000-5693400	Weak transcription	Right Atrium	heart
9	chr7:5677000-5701400	Weak transcription	Fetal Brain Male	brain
10	chr7:5677200-5689000	Weak transcription	Fetal Kidney	kidney
11	chr7:5677200-5689200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:5677200-5690600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:5677200-5707200	Weak transcription	Stomach Mucosa	stomach
14	chr7:5677400-5689000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:5677400-5689200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:5677400-5689400	Weak transcription	Brain Substantia Nigra	brain
17	chr7:5677400-5690000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:5677400-5706200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:5677600-5689000	Weak transcription	Brain Angular Gyrus	brain
20	chr7:5677600-5689000	Weak transcription	NHLF	lung
21	chr7:5677600-5691800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:5677600-5693600	Strong transcription	Stomach Smooth Muscle	stomach
23	chr7:5677600-5694000	Strong transcription	Fetal Stomach	stomach
24	chr7:5677800-5689000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:5677800-5689000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:5677800-5689000	Weak transcription	Pancreas	Pancrea
27	chr7:5679000-5689200	Weak transcription	Gastric	stomach
28	chr7:5679200-5706000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:5679400-5701600	Weak transcription	Fetal Heart	heart
30	chr7:5679800-5692800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:5680400-5689000	Weak transcription	Esophagus	oesophagus
32	chr7:5681200-5689000	Weak transcription	K562	blood
33	chr7:5682400-5692800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:5683400-5689000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:5683400-5697600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:5683600-5689000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:5683600-5689000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:5683600-5689000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr7:5683600-5689000	Weak transcription	Left Ventricle	heart
40	chr7:5683600-5689000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:5683600-5689000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:5683600-5693000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:5683600-5693800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr7:5683600-5710400	Weak transcription	Colonic Mucosa	Colon
45	chr7:5683800-5689200	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:5684000-5693200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:5684200-5689400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:5684400-5689000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:5684400-5689200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:5684800-5689000	Weak transcription	Spleen	Spleen

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