Variant report

Variant	rs806174
Chromosome Location	chr7:127291072-127291073
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127291013-127292731	HUVEC	blood vessel:	n/a	n/a
2	MYC	chr7:127291004-127293350	K562	blood:	n/a	chr7:127293151-127293161 chr7:127291654-127291663 chr7:127292615-127292625
3	POLR2A	chr7:127290908-127292823	K562	blood:	n/a	n/a
4	MTA3	chr7:127290837-127293079	GM12878	blood:	n/a	n/a
5	E2F6	chr7:127291053-127292983	K562	blood:	n/a	chr7:127291641-127291655
6	POLR2A	chr7:127291000-127292910	GM19099	blood:	n/a	n/a
7	POLR2A	chr7:127290939-127293541	GM12891	blood:	n/a	n/a
8	POLR2A	chr7:127291050-127291112	MCF-7	breast:	n/a	n/a
9	POLR2A	chr7:127290810-127292772	HCT-116	colon:	n/a	n/a
10	POLR2A	chr7:127290900-127293179	HCT-116	colon:	n/a	n/a
11	MAX	chr7:127291016-127292830	A549	lung:	n/a	chr7:127291654-127291663 chr7:127292615-127292625
12	POLR2A	chr7:127291018-127292793	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:127290951-127291236	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr7:127290767-127292914	GM12892	blood:	n/a	n/a
15	ZNF384	chr7:127290786-127291277	GM12878	blood:	n/a	n/a
16	NR2F2	chr7:127290709-127293437	K562	blood:	n/a	n/a
17	POLR2A	chr7:127290813-127293210	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:127291039-127292841	GM18951	blood:	n/a	n/a
19	POLR2A	chr7:127291000-127292869	HL-60	blood:	n/a	n/a
20	POLR2A	chr7:127290420-127293209	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:127290633-127293262	IMR90	lung:	n/a	n/a
22	POLR2A	chr7:127290873-127292092	ECC-1	luminal epithelium:	n/a	n/a
23	CHD2	chr7:127291057-127291257	GM12878	blood:	n/a	n/a
24	PAX5	chr7:127290866-127291421	GM12878	blood:	n/a	n/a
25	CBX3	chr7:127291013-127293334	K562	blood:	n/a	n/a
26	POLR2A	chr7:127291016-127293267	K562	blood:	n/a	n/a
27	POLR2A	chr7:127291025-127291128	A549	lung:	n/a	n/a
28	POLR2A	chr7:127291030-127293068	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr7:127289988-127293392	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT5A	chr7:127290943-127293258	K562	blood:	n/a	chr7:127292081-127292090 chr7:127292078-127292092 chr7:127292080-127292089
31	PAX5	chr7:127290917-127291400	GM12878	blood:	n/a	n/a
32	CREB1	chr7:127290912-127292869	K562	blood:	n/a	n/a
33	POLR2A	chr7:127290959-127293143	K562	blood:	n/a	n/a
34	ZNF384	chr7:127290566-127292532	K562	blood:	n/a	n/a
35	NRF1	chr7:127291058-127291224	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:127291072-127291236	MCF-7	breast:	n/a	n/a
37	PAX5	chr7:127290987-127291288	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:127291069-127292510	K562	blood:	n/a	n/a
39	POLR2A	chr7:127291032-127292558	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr7:127290785-127293293	GM12878	blood:	n/a	n/a
41	MXI1	chr7:127290896-127293781	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr7:127290895-127292878	GM12892	blood:	n/a	n/a
43	MXI1	chr7:127291056-127293255	GM12878	blood:	n/a	n/a
44	POLR2A	chr7:127290927-127292058	GM12892	blood:	n/a	n/a
45	POLR2A	chr7:127291018-127293264	K562	blood:	n/a	n/a
46	MAX	chr7:127290940-127293276	K562	blood:	n/a	chr7:127293151-127293161 chr7:127291654-127291663 chr7:127292615-127292625
47	POLR2A	chr7:127290977-127292784	GM12878	blood:	n/a	n/a
48	RUNX3	chr7:127290930-127292539	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:127290959-127292757	GM15510	blood:	n/a	n/a
50	PML	chr7:127290793-127292790	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:
2	chr7:127031057..127033330-chr7:127290561..127293507,3	MCF-7	breast:
3	chr7:127224289..127226040-chr7:127290840..127293019,2	MCF-7	breast:
4	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
5	chr7:127268675..127271053-chr7:127289533..127291398,3	MCF-7	breast:
6	chr7:127029926..127034103-chr7:127290516..127296284,10	K562	blood:
7	chr7:127290259..127292033-chr7:127774841..127777045,2	K562	blood:
8	chr7:127226125..127229974-chr7:127289784..127293571,8	MCF-7	breast:
9	chr7:127028627..127034604-chr7:127290902..127294330,10	K562	blood:
10	chr7:127232149..127233978-chr7:127290816..127293700,2	MCF-7	breast:
11	chr7:127226810..127231119-chr7:127290066..127293801,4	MCF-7	breast:

No data

Variant related genes	Relation type
SND1	TF binding region
ENSG00000048405	Chromatin interaction
ENSG00000179562	Chromatin interaction
ENSG00000004059	Chromatin interaction
ENSG00000106328	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11772303	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12539411	0.83[AMR][1000 genomes]
rs12540484	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12667197	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12668077	0.80[AMR][1000 genomes]
rs12673293	0.81[AMR][1000 genomes]
rs1419967	0.85[AMR][1000 genomes]
rs16871926	0.83[AMR][1000 genomes]
rs17151229	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17151377	0.86[AMR][1000 genomes]
rs17151470	0.85[AMR][1000 genomes]
rs2058457	0.83[AMR][1000 genomes]
rs2402871	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3757778	0.88[AMR][1000 genomes]
rs3757780	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3824003	0.86[AMR][1000 genomes]
rs4728079	0.81[AMR][1000 genomes]
rs4731377	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56185520	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58106688	0.81[AMR][1000 genomes]
rs59140894	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481385	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62481416	0.81[AMR][1000 genomes]
rs62481419	0.81[AMR][1000 genomes]
rs62481443	0.81[AMR][1000 genomes]
rs67338333	0.83[AMR][1000 genomes]
rs698408	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs712707	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs712715	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs712718	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs712719	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs765971	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs806166	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs806169	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs806172	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs806175	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs806180	0.97[ASN][1000 genomes]
rs806188	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs882694	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127285200-127291200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:127290800-127291200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:127290800-127291200	Enhancers	Primary B cells from cord blood	blood
4	chr7:127290800-127291200	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:127290800-127291200	Enhancers	Primary hematopoietic stem cells	blood
6	chr7:127290800-127291200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr7:127290800-127291200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:127290800-127291200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr7:127290800-127291200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:127290800-127291200	Enhancers	Brain Hippocampus Middle	brain
11	chr7:127290800-127291200	Enhancers	Fetal Intestine Small	intestine
12	chr7:127290800-127291200	Enhancers	Fetal Muscle Leg	muscle
13	chr7:127290800-127291800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:127290800-127291800	Flanking Active TSS	K562	blood
15	chr7:127290800-127292600	Active TSS	Primary T cells from cord blood	blood
16	chr7:127290800-127294000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:127290800-127294000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:127291000-127291200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:127291000-127291200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:127291000-127291200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:127291000-127291200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:127291000-127291200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:127291000-127291200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:127291000-127291200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:127291000-127291200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:127291000-127291200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:127291000-127291200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr7:127291000-127291200	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr7:127291000-127291200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:127291000-127291200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr7:127291000-127291200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr7:127291000-127291200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:127291000-127291200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:127291000-127291200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:127291000-127291200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:127291000-127291200	Enhancers	Adipose Nuclei	Adipose
37	chr7:127291000-127291200	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:127291000-127291200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:127291000-127291200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr7:127291000-127291200	Enhancers	Esophagus	oesophagus
41	chr7:127291000-127291200	Enhancers	Fetal Brain Male	brain
42	chr7:127291000-127291200	Active TSS	Fetal Brain Female	brain
43	chr7:127291000-127291200	Enhancers	Fetal Intestine Large	intestine
44	chr7:127291000-127291200	Active TSS	Fetal Kidney	kidney
45	chr7:127291000-127291200	Active TSS	Fetal Lung	lung
46	chr7:127291000-127291200	Enhancers	Placenta	Placenta
47	chr7:127291000-127291200	Enhancers	Fetal Thymus	thymus
48	chr7:127291000-127291200	Flanking Active TSS	Left Ventricle	heart
49	chr7:127291000-127291200	Flanking Active TSS	Pancreas	Pancrea
50	chr7:127291000-127291200	Active TSS	Rectal Mucosa Donor 31	rectum

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