Variant report

Variant	rs6958030
Chromosome Location	chr7:66457975-66457976
allele	C/T
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	POLR2A	chr7:66457893-66458820	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66426423..66428356-chr7:66456046..66459032,2	K562	blood:

Variant related genes	Relation type
TYW1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13227468	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6958030	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs6958030	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs6958030	RP4-756H11.3	cis	Thyroid	GTEx
rs6958030	RP4-756H11.3	cis	lung	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66420600-66459200	Weak transcription	Psoas Muscle	Psoas
2	chr7:66433200-66458600	Weak transcription	Right Atrium	heart
3	chr7:66446600-66459400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:66449400-66459200	Weak transcription	HepG2	liver
5	chr7:66449600-66459400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:66450800-66458200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:66451600-66458600	Strong transcription	Fetal Thymus	thymus
8	chr7:66451600-66458800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:66451600-66458800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:66451600-66459200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:66451600-66459400	Weak transcription	Esophagus	oesophagus
12	chr7:66451800-66458200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:66451800-66458400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:66451800-66458600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:66451800-66458600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr7:66451800-66458600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:66451800-66458800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:66451800-66459200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:66451800-66459200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:66452000-66458200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:66452000-66458400	Strong transcription	Adipose Nuclei	Adipose
22	chr7:66452000-66458600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:66452000-66458600	Strong transcription	Liver	Liver
24	chr7:66452000-66458800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:66452000-66459200	Weak transcription	Aorta	Aorta
26	chr7:66452000-66459800	Weak transcription	Small Intestine	intestine
27	chr7:66452200-66458000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr7:66452200-66458600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:66452200-66458800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:66452200-66458800	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:66452200-66458800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr7:66452200-66459000	Weak transcription	Fetal Brain Male	brain
33	chr7:66452200-66459000	Weak transcription	Fetal Heart	heart
34	chr7:66452400-66458800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:66452400-66458800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr7:66452600-66458200	Weak transcription	Colonic Mucosa	Colon
37	chr7:66452600-66458600	Weak transcription	Right Ventricle	heart
38	chr7:66452800-66458400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr7:66452800-66458600	Strong transcription	HUVEC	blood vessel
40	chr7:66452800-66459200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:66453000-66458600	Strong transcription	Fetal Muscle Leg	muscle
42	chr7:66453000-66458800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:66453200-66458000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:66453200-66458600	Strong transcription	Placenta	Placenta
45	chr7:66453200-66458600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr7:66453200-66458800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:66453400-66458400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr7:66453600-66458800	Strong transcription	Fetal Stomach	stomach
49	chr7:66453600-66458800	Weak transcription	NHLF	lung
50	chr7:66453600-66459000	Strong transcription	Fetal Intestine Small	intestine

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