Variant report

Variant	rs2402591
Chromosome Location	chr7:121513146-121513147
allele	A/C
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	NRF1	chr7:121513087-121513186	H1-hESC	embryonic stem cell:	n/a	chr7:121513130-121513139
3	JUND	chr7:121512920-121513278	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:121513093-121513658	H1-hESC	embryonic stem cell:	n/a	n/a
5	JUND	chr7:121512763-121513454	H1-hESC	embryonic stem cell:	n/a	chr7:121512786-121512795
6	ZNF263	chr7:121513076-121514037	HEK293-T-REx	kidney:	n/a	n/a
7	MYC	chr7:121512812-121513453	H1-hESC	embryonic stem cell:	n/a	chr7:121513131-121513141
8	TAF1	chr7:121512809-121513703	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3AK20	chr7:121513051-121513703	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr7:121513021-121513477	HepG2	liver:	n/a	chr7:121513131-121513141
11	CHD1	chr7:121512701-121514922	H1-hESC	embryonic stem cell:	n/a	chr7:121513805-121513815 chr7:121513800-121513810 chr7:121514486-121514495
12	POLR2A	chr7:121513114-121513470	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr7:121512875-121513480	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF143	chr7:121512948-121513500	H1-hESC	embryonic stem cell:	n/a	chr7:121513123-121513133
15	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
16	MAX	chr7:121512856-121513507	H1-hESC	embryonic stem cell:	n/a	chr7:121513131-121513141
17	SIN3A	chr7:121512451-121514404	H1-hESC	embryonic stem cell:	n/a	chr7:121513155-121513166
18	TAF7	chr7:121512819-121513751	H1-hESC	embryonic stem cell:	n/a	n/a
19	NANOG	chr7:121512961-121513350	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:121512853-121514206	H1-neurons	neurons:	n/a	n/a
21	MAX	chr7:121512821-121514221	H1-hESC	embryonic stem cell:	n/a	chr7:121513808-121513818 chr7:121513131-121513141
22	POLR2A	chr7:121512864-121513921	H1-neurons	neurons:	n/a	n/a
23	TAF1	chr7:121512753-121513844	H1-hESC	embryonic stem cell:	n/a	n/a
24	TCF12	chr7:121513035-121513255	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr7:121512790-121513874	H1-hESC	embryonic stem cell:	n/a	chr7:121513701-121513713
26	GTF2F1	chr7:121512838-121513378	H1-hESC	embryonic stem cell:	n/a	n/a
27	TBP	chr7:121512689-121513695	H1-hESC	embryonic stem cell:	n/a	n/a
28	BHLHE40	chr7:121513097-121513319	HepG2	liver:	n/a	n/a
29	TAF7	chr7:121512854-121513343	H1-hESC	embryonic stem cell:	n/a	n/a
30	REST	chr7:121512757-121514078	H1-neurons	neurons:	n/a	chr7:121513150-121513163
31	POLR2A	chr7:121512249-121513951	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr7:121512793-121513666	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr7:121512695-121513587	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZBTB7A	chr7:121512942-121513151	HepG2	liver:	n/a	n/a
35	EP300	chr7:121512818-121513432	H1-hESC	embryonic stem cell:	n/a	chr7:121513132-121513148
36	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: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12706382	0.84[ASN][1000 genomes]
rs13308121	0.81[EUR][1000 genomes]
rs35168178	0.86[EUR][1000 genomes]
rs35330552	0.81[EUR][1000 genomes]
rs73229107	0.86[EUR][1000 genomes]
rs7784550	0.81[EUR][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

No data

Chromatin state (count:96 , 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	chr7:121512400-121513800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
3	chr7:121512400-121514000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
4	chr7:121512400-121514200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:121512400-121514400	Bivalent/Poised TSS	Fetal Lung	lung
6	chr7:121512400-121514600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
7	chr7:121512400-121515000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:121512400-121515000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr7:121512400-121515200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
10	chr7:121512400-121515200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
11	chr7:121512400-121516000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
12	chr7:121512600-121513200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:121512600-121513400	Active TSS	Fetal Brain Female	brain
14	chr7:121512600-121514000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:121512600-121514000	Active TSS	NH-A	brain
16	chr7:121512600-121514400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:121512600-121514400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
18	chr7:121512600-121514800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
19	chr7:121512600-121515000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:121512600-121515200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr7:121512600-121515200	Active TSS	NHEK	skin
22	chr7:121512600-121515400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:121512600-121515600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr7:121512600-121515600	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr7:121512600-121516000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr7:121512600-121516000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:121512600-121516800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr7:121512800-121513200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:121512800-121513200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
30	chr7:121512800-121513200	Bivalent/Poised TSS	NHLF	lung
31	chr7:121512800-121513400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:121512800-121513400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:121512800-121513400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
34	chr7:121512800-121513400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr7:121512800-121513600	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr7:121512800-121513600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:121512800-121513600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
38	chr7:121512800-121513800	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:121512800-121513800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
40	chr7:121512800-121513800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
41	chr7:121512800-121513800	Active TSS	Placenta	Placenta
42	chr7:121512800-121513800	Bivalent/Poised TSS	Psoas Muscle	Psoas
43	chr7:121512800-121513800	Bivalent/Poised TSS	HSMMtube	muscle
44	chr7:121512800-121514000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:121512800-121514000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:121512800-121514000	Bivalent/Poised TSS	HSMM	muscle
47	chr7:121512800-121514200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:121512800-121514200	Active TSS	Esophagus	oesophagus
49	chr7:121512800-121514200	Active TSS	Gastric	stomach
50	chr7:121512800-121514200	Active TSS	Pancreas	Pancrea

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