Variant report

Variant	rs4720684
Chromosome Location	chr7:6861743-6861744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs4720685	0.86[AMR][1000 genomes]
rs4724854	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4724857	0.85[AMR][1000 genomes]
rs62441818	0.80[ASN][1000 genomes]
rs62441819	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62441858	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62442265	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62442271	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv887450	chr7:6779270-6919214	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv887451	chr7:6779270-6985071	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv887452	chr7:6791749-6919214	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv887453	chr7:6803267-6919214	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv887454	chr7:6805437-6919214	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv887455	chr7:6820508-6960802	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv887456	chr7:6820508-6985071	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv887457	chr7:6820508-7163442	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
15	nsv887458	chr7:6832265-6948647	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv887459	chr7:6832265-6950761	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv887460	chr7:6832265-6952350	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv887461	chr7:6832265-7163442	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
19	esv2762647	chr7:6833877-6885538	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv981430	chr7:6849071-6893097	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	nsv1019159	chr7:6854098-6920268	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
22	nsv1033423	chr7:6854098-6932778	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
23	nsv1017971	chr7:6854098-6968616	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv1023478	chr7:6854098-7001595	Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv1022295	chr7:6854098-7171376	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
26	nsv1021638	chr7:6854098-7188086	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
27	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
28	nsv441808	chr7:6854110-6864083	Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
29	nsv887462	chr7:6855510-6986809	Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4720684	C7orf28A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6832000-6864600	Weak transcription	Primary T cells from cord blood	blood
2	chr7:6832000-6864800	Weak transcription	Fetal Thymus	thymus
3	chr7:6832400-6864600	Weak transcription	Fetal Lung	lung
4	chr7:6832600-6864600	Weak transcription	NHLF	lung
5	chr7:6833000-6865200	Weak transcription	Left Ventricle	heart
6	chr7:6833000-6865200	Weak transcription	Ovary	ovary
7	chr7:6833200-6865200	Weak transcription	Pancreas	Pancrea
8	chr7:6833600-6864600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:6833600-6865200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:6834000-6866000	Weak transcription	Gastric	stomach
11	chr7:6840000-6865200	Weak transcription	Colonic Mucosa	Colon
12	chr7:6846600-6864600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:6847400-6864600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:6847800-6864800	Weak transcription	NH-A	brain
15	chr7:6848200-6864600	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:6848400-6864800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:6848800-6863400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:6849000-6863200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:6849000-6863200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:6849000-6864600	Weak transcription	Brain Angular Gyrus	brain
21	chr7:6849400-6862800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:6849400-6863000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:6849600-6863400	Strong transcription	Fetal Stomach	stomach
24	chr7:6849800-6864600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:6850000-6861800	Strong transcription	Adipose Nuclei	Adipose
26	chr7:6850000-6863200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr7:6850400-6865200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:6850400-6866000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:6850600-6863400	Strong transcription	Fetal Intestine Small	intestine
30	chr7:6851400-6864600	Weak transcription	GM12878-XiMat	blood
31	chr7:6851400-6864800	Weak transcription	K562	blood
32	chr7:6851600-6864600	Weak transcription	Primary B cells from cord blood	blood
33	chr7:6851600-6864800	Weak transcription	A549	lung
34	chr7:6851800-6863200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr7:6851800-6864800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:6851800-6864800	Weak transcription	Right Ventricle	heart
37	chr7:6852000-6864600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr7:6852800-6864600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:6853200-6865200	Weak transcription	Esophagus	oesophagus
40	chr7:6853400-6864000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr7:6853400-6864800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:6853400-6865200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:6853600-6864600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:6853600-6864600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:6854000-6864800	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:6854400-6864800	Weak transcription	Lung	lung
47	chr7:6854400-6864800	Weak transcription	HSMM	muscle
48	chr7:6854400-6865200	Weak transcription	Fetal Kidney	kidney
49	chr7:6855000-6864800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:6855200-6864600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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