Variant report

Variant	rs6973858
Chromosome Location	chr7:5694373-5694374
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr7:5694274-5694374	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNF216	TF binding region

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

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

rs_ID	r²[population]
rs11977751	0.93[AFR][1000 genomes]
rs11979543	0.86[AFR][1000 genomes]
rs11980556	0.83[AFR][1000 genomes]
rs6960197	0.82[AFR][1000 genomes]
rs6977637	0.86[AFR][1000 genomes]
rs7791135	0.90[AFR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine
2	chr7:5677000-5701400	Weak transcription	Fetal Brain Male	brain
3	chr7:5677200-5707200	Weak transcription	Stomach Mucosa	stomach
4	chr7:5677400-5706200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:5679200-5706000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:5679400-5701600	Weak transcription	Fetal Heart	heart
7	chr7:5683400-5697600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:5683600-5710400	Weak transcription	Colonic Mucosa	Colon
9	chr7:5689800-5704000	Weak transcription	Fetal Brain Female	brain
10	chr7:5690000-5701400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:5690200-5699000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:5690200-5701400	Weak transcription	Brain Germinal Matrix	brain
13	chr7:5690200-5704000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:5690200-5706000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:5690400-5701400	Weak transcription	NHDF-Ad	bronchial
16	chr7:5690400-5702400	Weak transcription	Psoas Muscle	Psoas
17	chr7:5690600-5701000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:5690600-5704200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:5690600-5704200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:5690800-5696000	Weak transcription	Esophagus	oesophagus
21	chr7:5690800-5701000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:5690800-5704000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:5691000-5695800	Weak transcription	Placenta	Placenta
24	chr7:5691000-5701600	Weak transcription	Right Ventricle	heart
25	chr7:5691000-5712000	Weak transcription	Fetal Kidney	kidney
26	chr7:5691200-5721000	Weak transcription	Pancreas	Pancrea
27	chr7:5691600-5695400	Enhancers	Brain Substantia Nigra	brain
28	chr7:5691800-5701600	Weak transcription	Fetal Lung	lung
29	chr7:5692000-5694400	Genic enhancers	Fetal Muscle Leg	muscle
30	chr7:5692000-5694800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr7:5692000-5695400	Weak transcription	Spleen	Spleen
32	chr7:5692000-5701600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:5692200-5694800	Enhancers	Brain Hippocampus Middle	brain
34	chr7:5692200-5695400	Weak transcription	Liver	Liver
35	chr7:5692200-5695400	Weak transcription	Thymus	Thymus
36	chr7:5692200-5696000	Weak transcription	A549	lung
37	chr7:5692200-5696200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:5692200-5700200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:5692200-5701000	Weak transcription	HUVEC	blood vessel
40	chr7:5692200-5701200	Weak transcription	Aorta	Aorta
41	chr7:5692200-5701600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:5692200-5701600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr7:5692200-5701600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:5692200-5704000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:5692400-5695400	Weak transcription	Primary B cells from cord blood	blood
46	chr7:5692400-5695800	Weak transcription	Osteobl	bone
47	chr7:5692400-5697400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:5692400-5700800	Weak transcription	Ovary	ovary
49	chr7:5692400-5701000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:5692400-5701200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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