Variant report

Variant	rs72706014
Chromosome Location	chr1:161720349-161720350
allele	C/G
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	KAP1	chr1:161719287-161720440	HEK293	kidney:	n/a	n/a
2	GATA1	chr1:161719144-161720423	PBDE	blood:	n/a	n/a
3	MAX	chr1:161719231-161720356	MCF-7	breast:	n/a	chr1:161720169-161720179 chr1:161720054-161720064
4	POLR2A	chr1:161719135-161720433	MCF10A-Er-Src	breast:	n/a	n/a
5	ELF1	chr1:161719891-161720362	K562	blood:	n/a	chr1:161720166-161720178
6	MXI1	chr1:161719111-161720413	GM12878	blood:	n/a	n/a
7	MAX	chr1:161719169-161720428	A549	lung:	n/a	chr1:161720169-161720179 chr1:161720054-161720064
8	UBTF	chr1:161719799-161720425	K562	blood:	n/a	n/a
9	SP1	chr1:161719949-161720424	H1-hESC	embryonic stem cell:	n/a	chr1:161720165-161720179 chr1:161720168-161720180 chr1:161720168-161720179 chr1:161720169-161720178 chr1:161720165-161720178
10	EP300	chr1:161719956-161720372	K562	blood:	n/a	chr1:161720160-161720176
11	MAX	chr1:161719233-161720351	ECC-1	luminal epithelium:	n/a	chr1:161720169-161720179 chr1:161720054-161720064
12	RCOR1	chr1:161719245-161720410	K562	blood:	n/a	n/a
13	TEAD4	chr1:161719131-161720471	K562	blood:	n/a	n/a
14	POLR2A	chr1:161719328-161720394	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:161719213-161720478	K562	blood:	n/a	n/a
16	HCFC1	chr1:161718893-161720620	Hela-S3	cervix:	n/a	n/a
17	SIN3A	chr1:161719383-161720418	H1-hESC	embryonic stem cell:	n/a	chr1:161720163-161720174
18	NR2F2	chr1:161719156-161720424	K562	blood:	n/a	n/a
19	POLR2A	chr1:161718920-161720671	PFSK-1	brain:	n/a	n/a
20	GATA3	chr1:161719944-161720431	T-47D	breast:	n/a	n/a
21	TBL1XR1	chr1:161719447-161720510	K562	blood:	n/a	n/a
22	TCF12	chr1:161719155-161720434	A549	lung:	n/a	n/a
23	WRNIP1	chr1:161720143-161720374	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:161719032-161720401	U87	brain:	n/a	n/a
25	SP4	chr1:161719957-161720507	H1-hESC	embryonic stem cell:	n/a	chr1:161720168-161720179
26	PBX3	chr1:161719348-161720493	SK-N-SH	brain:	n/a	n/a
27	IRF1	chr1:161719229-161720363	K562	blood:	n/a	chr1:161719431-161719445
28	E2F6	chr1:161719260-161720354	A549	lung:	n/a	n/a
29	POLR2A	chr1:161719209-161720459	H1-neurons	neurons:	n/a	n/a
30	ATF2	chr1:161719392-161720583	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr1:161719345-161720395	K562	blood:	n/a	n/a
32	MAZ	chr1:161719261-161720414	K562	blood:	n/a	chr1:161720169-161720179 chr1:161720054-161720064
33	MXI1	chr1:161719200-161720480	IMR90	lung:	n/a	n/a
34	HDAC2	chr1:161720019-161720437	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr1:161719158-161720423	PFSK-1	brain:	n/a	n/a
36	JUND	chr1:161719493-161720449	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr1:161719240-161720404	H1-hESC	embryonic stem cell:	n/a	n/a
38	PML	chr1:161719262-161720471	K562	blood:	n/a	n/a
39	CHD1	chr1:161719242-161720406	GM12878	blood:	n/a	chr1:161720174-161720184
40	REST	chr1:161718750-161720601	H1-neurons	neurons:	n/a	chr1:161720166-161720179
41	SIN3AK20	chr1:161719875-161720366	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr1:161719295-161720354	K562	blood:	n/a	n/a
43	POLR2A	chr1:161719222-161720367	GM12892	blood:	n/a	n/a
44	POLR2A	chr1:161719192-161720442	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr1:161719068-161720695	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr1:161719237-161720418	H1-hESC	embryonic stem cell:	n/a	n/a
47	BCLAF1	chr1:161719209-161720387	GM12878	blood:	n/a	chr1:161720049-161720062 chr1:161719434-161719443
48	SETDB1	chr1:161718751-161720567	U2OS	brain:	n/a	n/a
49	POLR2A	chr1:161719228-161720442	HUVEC	blood vessel:	n/a	n/a
50	SIN3AK20	chr1:161719833-161720371	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161718394..161721019-chr17:57915124..57916843,2	MCF-7	breast:
2	chr1:161718595..161726705-chr1:161728119..161739561,22	MCF-7	breast:
3	chr1:161703503..161707776-chr1:161717836..161724077,7	K562	blood:
4	chr1:161718568..161724937-chr1:161732191..161738837,13	K562	blood:
5	chr1:161696672..161698764-chr1:161719597..161721628,3	K562	blood:
6	chr1:161694367..161698874-chr1:161718174..161721030,6	MCF-7	breast:
7	chr1:161718558..161723568-chr1:161731521..161737462,16	K562	blood:
8	chr1:161719443..161721129-chr1:161721357..161723660,2	MCF-7	breast:
9	chr1:161719690..161721736-chr1:161980982..161982945,2	MCF-7	breast:
10	chr1:161718427..161720383-chr1:161735445..161737521,2	MCF-7	breast:
11	chr1:161704696..161707209-chr1:161718366..161721899,3	MCF-7	breast:

Variant related genes	Relation type
DUSP12	TF binding region
ENSG00000226889	Chromatin interaction
ENSG00000162746	Chromatin interaction
ENSG00000241347	Chromatin interaction
ENSG00000118217	Chromatin interaction
ENSG00000081721	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12021510	0.92[EUR][1000 genomes]
rs12046383	0.85[EUR][1000 genomes]
rs16859935	0.86[EUR][1000 genomes]
rs17406901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17414989	0.87[EUR][1000 genomes]
rs17415303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17415408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17415505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55871495	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56077197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56124956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60397531	0.81[EUR][1000 genomes]
rs61801189	0.85[EUR][1000 genomes]
rs61801191	0.85[EUR][1000 genomes]
rs61801234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801236	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61801237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706008	0.85[EUR][1000 genomes]
rs72706022	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72706023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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 target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr1:161718800-161720800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr1:161719000-161720400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:161719000-161720400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:161719000-161720600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:161719000-161720800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:161719000-161721000	Active TSS	Right Ventricle	heart
7	chr1:161719200-161720400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:161719200-161720400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:161719200-161720400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:161719200-161720400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:161719200-161720400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:161719200-161720400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:161719200-161720400	Active TSS	Brain Anterior Caudate	brain
14	chr1:161719200-161720400	Active TSS	Brain Cingulate Gyrus	brain
15	chr1:161719200-161720400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr1:161719200-161720400	Active TSS	Fetal Heart	heart
17	chr1:161719200-161720400	Active TSS	Fetal Kidney	kidney
18	chr1:161719200-161720400	Active TSS	Fetal Muscle Trunk	muscle
19	chr1:161719200-161720400	Active TSS	Ovary	ovary
20	chr1:161719200-161720400	Active TSS	Psoas Muscle	Psoas
21	chr1:161719200-161720600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr1:161719200-161720600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr1:161719200-161720600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr1:161719200-161720600	Active TSS	Left Ventricle	heart
25	chr1:161719200-161720600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr1:161719200-161720600	Active TSS	HMEC	breast
27	chr1:161719200-161720800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:161719200-161720800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:161719200-161720800	Active TSS	Colon Smooth Muscle	Colon
30	chr1:161719200-161720800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr1:161719200-161720800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr1:161719200-161720800	Active TSS	HSMM	muscle
33	chr1:161719200-161721000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:161719200-161721000	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:161719200-161721000	Active TSS	A549	lung
36	chr1:161719200-161721000	Active TSS	GM12878-XiMat	blood
37	chr1:161719200-161721000	Active TSS	HSMMtube	muscle
38	chr1:161719200-161721000	Active TSS	NH-A	brain
39	chr1:161719200-161721000	Active TSS	NHDF-Ad	bronchial
40	chr1:161719200-161721000	Active TSS	NHLF	lung
41	chr1:161719400-161720400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:161719400-161720400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:161719400-161720400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:161719400-161720400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:161719400-161720400	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr1:161719400-161720400	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr1:161719400-161720400	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr1:161719400-161720400	Active TSS	Esophagus	oesophagus
49	chr1:161719400-161720400	Active TSS	Gastric	stomach
50	chr1:161719400-161720400	Active TSS	Placenta Amnion	Placenta Amnion

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