Variant report

Variant	rs1723728
Chromosome Location	chr7:129591773-129591774
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	chr7:129591296-129593051	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr7:129588724-129592947	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr7:129591686-129591875	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:129590069-129592952	GM12892	blood:	n/a	n/a
5	MTA3	chr7:129591361-129591947	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:129588714-129592949	GM18505	blood:	n/a	n/a
7	POLR2A	chr7:129591420-129592970	Hela-S3	cervix:	n/a	n/a
8	MTA3	chr7:129588689-129593264	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:129588654-129592959	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr7:129588635-129592962	GM12891	blood:	n/a	n/a
11	CHD1	chr7:129588790-129592142	H1-hESC	embryonic stem cell:	n/a	chr7:129591481-129591491
12	POLR2A	chr7:129591251-129593030	GM12892	blood:	n/a	n/a
13	NR2F2	chr7:129590973-129593329	K562	blood:	n/a	n/a
14	POLR2A	chr7:129591186-129591956	H1-hESC	embryonic stem cell:	n/a	n/a
15	WRNIP1	chr7:129591239-129592287	GM12878	blood:	n/a	n/a
16	MAZ	chr7:129591506-129591868	GM12878	blood:	n/a	n/a
17	SIN3AK20	chr7:129591767-129593200	MCF-7	breast:	n/a	n/a
18	POLR2A	chr7:129589981-129592948	GM12878	blood:	n/a	n/a
19	ZBTB7A	chr7:129591349-129591782	K562	blood:	n/a	n/a
20	TEAD4	chr7:129590871-129591921	K562	blood:	n/a	n/a
21	POLR2A	chr7:129588016-129593036	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr7:129588558-129592940	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:129591288-129593002	HCT-116	colon:	n/a	n/a
24	RCOR1	chr7:129591234-129593212	K562	blood:	n/a	n/a
25	JUND	chr7:129586819-129593622	SK-N-SH	brain:	n/a	chr7:129589371-129589383 chr7:129589371-129589382 chr7:129592822-129592831 chr7:129592808-129592817 chr7:129589107-129589118 chr7:129588334-129588342 chr7:129588333-129588343 chr7:129588333-129588343 chr7:129589373-129589381
26	PML	chr7:129591751-129593126	GM12878	blood:	n/a	chr7:129591993-129592001
27	JUN	chr7:129588260-129593475	K562	blood:	n/a	chr7:129589371-129589383 chr7:129592822-129592831 chr7:129592808-129592817 chr7:129589107-129589118 chr7:129588334-129588342 chr7:129592807-129592820 chr7:129588333-129588343 chr7:129588333-129588343 chr7:129592821-129592834 chr7:129589373-129589381
28	TFAP2A	chr7:129591387-129592875	Hela-S3	cervix:	n/a	chr7:129592246-129592261 chr7:129592250-129592261 chr7:129592250-129592261 chr7:129592250-129592261 chr7:129591420-129591432 chr7:129592250-129592261 chr7:129591418-129591432 chr7:129592441-129592449 chr7:129591665-129591673 chr7:129591665-129591673 chr7:129592441-129592449 chr7:129592441-129592449 chr7:129592440-129592452 chr7:129591665-129591673
29	RELA	chr7:129591406-129593192	GM18951	blood:	n/a	chr7:129592880-129592889 chr7:129593150-129593159 chr7:129592880-129592889 chr7:129593150-129593159
30	GATA1	chr7:129591230-129591954	PBDE	blood:	n/a	chr7:129591900-129591910 chr7:129591428-129591444 chr7:129591430-129591442 chr7:129591431-129591441
31	REST	chr7:129588527-129593242	H1-neurons	neurons:	n/a	chr7:129590285-129590298 chr7:129592564-129592573
32	GATA3	chr7:129588414-129591812	SK-N-SH	brain:	n/a	chr7:129591428-129591444 chr7:129590051-129590060 chr7:129589456-129589463 chr7:129590312-129590325 chr7:129591430-129591442 chr7:129591431-129591441 chr7:129589371-129589380
33	POLR2A	chr7:129591295-129592908	HepG2	liver:	n/a	n/a
34	TFAP2C	chr7:129591320-129592910	Hela-S3	cervix:	n/a	chr7:129592246-129592261
35	EP300	chr7:129587451-129593634	SK-N-SH	brain:	n/a	chr7:129588688-129588702 chr7:129592865-129592874 chr7:129589432-129589445 chr7:129591093-129591107 chr7:129592906-129592920 chr7:129587603-129587617 chr7:129587516-129587526 chr7:129589989-129589998 chr7:129590804-129590817 chr7:129592472-129592481
36	CHD1	chr7:129591705-129592961	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:129591547-129593036	H1-neurons	neurons:	n/a	n/a
38	CTCF	chr7:129591760-129592010	NB4	blood:	n/a	n/a
39	POLR2A	chr7:129591186-129593020	K562	blood:	n/a	n/a
40	HCFC1	chr7:129590727-129593448	Hela-S3	cervix:	n/a	n/a
41	SIN3AK20	chr7:129591190-129593031	SK-N-SH	brain:	n/a	n/a
42	RELA	chr7:129591733-129593087	GM15510	blood:	n/a	chr7:129592880-129592889 chr7:129592880-129592889
43	SIN3A	chr7:129590144-129593276	H1-hESC	embryonic stem cell:	n/a	n/a
44	HDAC2	chr7:129591203-129592047	K562	blood:	n/a	n/a
45	POLR2A	chr7:129590236-129592921	HUVEC	blood vessel:	n/a	n/a
46	RFX5	chr7:129586524-129593512	SK-N-SH	brain:	n/a	chr7:129589159-129589168 chr7:129589157-129589173 chr7:129589156-129589170
47	POLR2A	chr7:129588134-129592912	GM12878	blood:	n/a	n/a
48	MAZ	chr7:129590955-129593253	IMR90	lung:	n/a	n/a
49	SIN3AK20	chr7:129591485-129591814	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:129589916..129591919-chr7:129647543..129650529,3	MCF-7	breast:
2	chr7:129589706..129593830-chr7:129648569..129652314,11	MCF-7	breast:
3	chr7:129589828..129592812-chr7:129690460..129692657,3	K562	blood:
4	chr7:129589671..129591820-chr7:129593971..129596891,3	K562	blood:
5	chr7:129589344..129594008-chr7:129594437..129600591,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199516	TF binding region
UBE2H	TF binding region
ENSG00000244036	TF binding region
ENSG00000199516	Chromatin interaction
ENSG00000091732	Chromatin interaction
ENSG00000244036	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1045897	0.89[ASN][1000 genomes]
rs34438031	0.83[ASN][1000 genomes]
rs34463221	0.83[ASN][1000 genomes]
rs34629832	0.83[ASN][1000 genomes]
rs35182759	0.83[ASN][1000 genomes]
rs35793528	0.83[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	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129588200-129592200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:129588400-129591800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr7:129588400-129592200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr7:129588400-129593000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:129588600-129591800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr7:129588600-129591800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr7:129588600-129592000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr7:129588600-129593000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:129588600-129593000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:129588600-129593000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:129588600-129593000	Active TSS	Esophagus	oesophagus
12	chr7:129588800-129591800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:129588800-129591800	Active TSS	Fetal Brain Male	brain
14	chr7:129588800-129592200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr7:129588800-129592200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:129588800-129592400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr7:129588800-129592800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:129588800-129592800	Active TSS	Aorta	Aorta
19	chr7:129588800-129592800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:129588800-129593000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:129588800-129593000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr7:129588800-129593000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:129588800-129593000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:129588800-129593200	Active TSS	Fetal Brain Female	brain
25	chr7:129589000-129591800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:129589000-129592800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:129589000-129592800	Active TSS	Ovary	ovary
28	chr7:129589000-129593000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:129589000-129593000	Active TSS	Fetal Muscle Trunk	muscle
30	chr7:129589200-129592800	Active TSS	Pancreas	Pancrea
31	chr7:129589200-129592800	Active TSS	Psoas Muscle	Psoas
32	chr7:129589200-129593000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr7:129589200-129593000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:129589200-129593000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:129589200-129593000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:129589200-129593000	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr7:129589400-129592000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:129589400-129592800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:129589400-129592800	Active TSS	Placenta Amnion	Placenta Amnion
40	chr7:129589400-129593000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr7:129589400-129593000	Active TSS	Brain Germinal Matrix	brain
42	chr7:129589400-129593200	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr7:129589600-129592800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr7:129589600-129592800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:129589600-129592800	Active TSS	GM12878-XiMat	blood
46	chr7:129589600-129592800	Active TSS	HSMMtube	muscle
47	chr7:129589600-129593000	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr7:129589600-129593000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:129589800-129592000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:129589800-129592800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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