Variant report

Variant	rs740964
Chromosome Location	chr7:121512949-121512950
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	MXI1	chr7:121512905-121513613	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUND	chr7:121512920-121513278	H1-hESC	embryonic stem cell:	n/a	n/a
3	JUND	chr7:121512763-121513454	H1-hESC	embryonic stem cell:	n/a	chr7:121512786-121512795
4	MYC	chr7:121512812-121513453	H1-hESC	embryonic stem cell:	n/a	chr7:121513131-121513141
5	TAF1	chr7:121512809-121513703	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD1	chr7:121512701-121514922	H1-hESC	embryonic stem cell:	n/a	chr7:121513805-121513815 chr7:121513800-121513810 chr7:121514486-121514495
7	CHD2	chr7:121512875-121513480	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF143	chr7:121512948-121513500	H1-hESC	embryonic stem cell:	n/a	chr7:121513123-121513133
9	EGR1	chr7:121512929-121513359	H1-hESC	embryonic stem cell:	n/a	chr7:121513131-121513144 chr7:121513131-121513144 chr7:121513125-121513138 chr7:121513132-121513142 chr7:121513129-121513139 chr7:121513130-121513145
10	POLR2A	chr7:121512818-121513113	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr7:121512920-121513070	HBMEC	blood vessel:	n/a	n/a
12	MAX	chr7:121512856-121513507	H1-hESC	embryonic stem cell:	n/a	chr7:121513131-121513141
13	SIN3A	chr7:121512451-121514404	H1-hESC	embryonic stem cell:	n/a	chr7:121513155-121513166
14	TAF7	chr7:121512819-121513751	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:121512853-121514206	H1-neurons	neurons:	n/a	n/a
16	MAX	chr7:121512821-121514221	H1-hESC	embryonic stem cell:	n/a	chr7:121513808-121513818 chr7:121513131-121513141
17	POLR2A	chr7:121512864-121513921	H1-neurons	neurons:	n/a	n/a
18	TAF1	chr7:121512753-121513844	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr7:121512790-121513874	H1-hESC	embryonic stem cell:	n/a	chr7:121513701-121513713
20	POLR2A	chr7:121512799-121513076	H1-hESC	embryonic stem cell:	n/a	n/a
21	GTF2F1	chr7:121512838-121513378	H1-hESC	embryonic stem cell:	n/a	n/a
22	TBP	chr7:121512689-121513695	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF7	chr7:121512854-121513343	H1-hESC	embryonic stem cell:	n/a	n/a
24	REST	chr7:121512757-121514078	H1-neurons	neurons:	n/a	chr7:121513150-121513163
25	POLR2A	chr7:121512249-121513951	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr7:121512793-121513666	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr7:121512695-121513587	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZBTB7A	chr7:121512942-121513151	HepG2	liver:	n/a	n/a
29	EP300	chr7:121512818-121513432	H1-hESC	embryonic stem cell:	n/a	chr7:121513132-121513148
30	RAD21	chr7:121512800-121513366	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PTPRZ1	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1007522	0.81[CEU][hapmap];0.80[CHD][hapmap];0.91[JPT][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs1007784	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1011693	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs10246475	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10256242	0.89[CEU][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.93[TSI][hapmap]
rs10275407	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11978007	0.95[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs1206473	1.00[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1206477	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1206480	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1206481	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1206482	0.85[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1206483	0.85[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206486	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1206488	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs1206492	1.00[ASW][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.81[MKK][hapmap]
rs1206500	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1206501	0.86[JPT][hapmap]
rs12666526	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1916880	0.84[CEU][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes]
rs1916883	0.90[EUR][1000 genomes]
rs1916886	0.85[CEU][hapmap];0.80[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs1916887	0.90[EUR][1000 genomes]
rs1916888	0.80[CHD][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs1916889	0.95[JPT][hapmap];0.88[EUR][1000 genomes]
rs2024249	0.96[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2191782	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2215572	0.96[CEU][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2402590	0.85[EUR][1000 genomes]
rs3757549	0.96[CEU][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3757550	0.85[CEU][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs740960	0.90[EUR][1000 genomes]
rs7778179	0.85[EUR][1000 genomes]
rs7797305	0.89[CEU][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap]
rs7808915	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7809971	0.84[EUR][1000 genomes]
rs960539	0.96[CEU][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1802911	chr7:121489994-121524500	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs740964	TAS2R16	cis	parietal	SCAN
rs740964	KCND2	cis	cerebellum	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121512200-121515600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:121512400-121513000	Bivalent Enhancer	Liver	Liver
3	chr7:121512400-121513800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
4	chr7:121512400-121514000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
5	chr7:121512400-121514200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:121512400-121514400	Bivalent/Poised TSS	Fetal Lung	lung
7	chr7:121512400-121514600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr7:121512400-121515000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:121512400-121515000	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr7:121512400-121515200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
11	chr7:121512400-121515200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
12	chr7:121512400-121516000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
13	chr7:121512600-121513000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:121512600-121513000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:121512600-121513000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:121512600-121513000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr7:121512600-121513000	Flanking Bivalent TSS/Enh	Right Ventricle	heart
18	chr7:121512600-121513200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:121512600-121513400	Active TSS	Fetal Brain Female	brain
20	chr7:121512600-121514000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:121512600-121514000	Active TSS	NH-A	brain
22	chr7:121512600-121514400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:121512600-121514400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
24	chr7:121512600-121514800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
25	chr7:121512600-121515000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:121512600-121515200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr7:121512600-121515200	Active TSS	NHEK	skin
28	chr7:121512600-121515400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:121512600-121515600	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr7:121512600-121515600	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr7:121512600-121516000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr7:121512600-121516000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:121512600-121516800	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr7:121512800-121513000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:121512800-121513000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:121512800-121513000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
37	chr7:121512800-121513000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:121512800-121513000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr7:121512800-121513000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr7:121512800-121513000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
41	chr7:121512800-121513000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr7:121512800-121513000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
43	chr7:121512800-121513000	Enhancers	Spleen	Spleen
44	chr7:121512800-121513000	Bivalent/Poised TSS	NHDF-Ad	bronchial
45	chr7:121512800-121513200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:121512800-121513200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
47	chr7:121512800-121513200	Bivalent/Poised TSS	NHLF	lung
48	chr7:121512800-121513400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:121512800-121513400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:121512800-121513400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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