Variant report

Variant	rs9726181
Chromosome Location	chr1:173837708-173837709
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	BHLHE40	chr1:173836552-173838056	HepG2	liver:	n/a	chr1:173837842-173837858 chr1:173837832-173837848
2	POLR2A	chr1:173830742-173838152	GM18951	blood:	n/a	n/a
3	CREB1	chr1:173836698-173838039	H1-hESC	embryonic stem cell:	n/a	chr1:173837167-173837180
4	POLR2A	chr1:173834360-173838079	U87	brain:	n/a	n/a
5	ZNF143	chr1:173836936-173838107	H1-hESC	embryonic stem cell:	n/a	chr1:173837757-173837775
6	YY1	chr1:173837513-173838122	H1-hESC	embryonic stem cell:	n/a	chr1:173837836-173837850 chr1:173837835-173837846 chr1:173837838-173837847 chr1:173837770-173837784 chr1:173837865-173837874 chr1:173837841-173837850 chr1:173837868-173837877
7	MAX	chr1:173836527-173837947	K562	blood:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
8	ATF2	chr1:173836577-173837709	GM12878	blood:	n/a	n/a
9	FOS	chr1:173836915-173837932	MCF10A-Er-Src	breast:	n/a	chr1:173837048-173837062 chr1:173837421-173837430 chr1:173837443-173837452 chr1:173837835-173837844 chr1:173837169-173837178
10	PBX3	chr1:173836712-173838037	SK-N-SH	brain:	n/a	n/a
11	GABPA	chr1:173837260-173837729	GM12878	blood:	n/a	n/a
12	GTF2F1	chr1:173836449-173838074	H1-hESC	embryonic stem cell:	n/a	n/a
13	EGR1	chr1:173836784-173838010	K562	blood:	n/a	chr1:173837378-173837391 chr1:173837729-173837742 chr1:173837614-173837624 chr1:173837729-173837742 chr1:173837616-173837630 chr1:173837418-173837431 chr1:173837380-173837390 chr1:173837777-173837790 chr1:173837834-173837844
14	TAF1	chr1:173836648-173837862	GM12878	blood:	n/a	n/a
15	SRF	chr1:173836807-173837730	ECC-1	luminal epithelium:	n/a	n/a
16	ESR1	chr1:173837360-173837821	T-47D	breast:	n/a	chr1:173837603-173837618
17	YY1	chr1:173836276-173838159	K562	blood:	n/a	chr1:173837836-173837850 chr1:173837835-173837846 chr1:173837838-173837847 chr1:173837770-173837784 chr1:173837865-173837874 chr1:173837841-173837850 chr1:173837868-173837877
18	FOS	chr1:173836934-173837716	MCF10A-Er-Src	breast:	n/a	chr1:173837048-173837062 chr1:173837421-173837430 chr1:173837443-173837452 chr1:173837169-173837178
19	BHLHE40	chr1:173836581-173838423	K562	blood:	n/a	chr1:173837842-173837858 chr1:173837832-173837848
20	TBL1XR1	chr1:173834693-173838215	K562	blood:	n/a	n/a
21	EGR1	chr1:173837229-173837988	GM12878	blood:	n/a	chr1:173837378-173837391 chr1:173837729-173837742 chr1:173837614-173837624 chr1:173837729-173837742 chr1:173837616-173837630 chr1:173837418-173837431 chr1:173837380-173837390 chr1:173837777-173837790 chr1:173837834-173837844
22	YY1	chr1:173837580-173838116	HCT-116	colon:	n/a	chr1:173837836-173837850 chr1:173837835-173837846 chr1:173837838-173837847 chr1:173837770-173837784 chr1:173837865-173837874 chr1:173837841-173837850 chr1:173837868-173837877
23	ESR1	chr1:173837366-173837810	T-47D	breast:	n/a	chr1:173837603-173837618
24	PML	chr1:173836599-173838190	MCF-7	breast:	n/a	n/a
25	YY1	chr1:173837553-173838058	GM12891	blood:	n/a	chr1:173837836-173837850 chr1:173837835-173837846 chr1:173837838-173837847 chr1:173837770-173837784 chr1:173837865-173837874 chr1:173837841-173837850 chr1:173837868-173837877
26	CHD1	chr1:173835208-173838152	GM12878	blood:	n/a	chr1:173836993-173837000 chr1:173837608-173837618 chr1:173837832-173837842
27	YY1	chr1:173836319-173838151	HepG2	liver:	n/a	chr1:173837836-173837850 chr1:173837835-173837846 chr1:173837838-173837847 chr1:173837770-173837784 chr1:173837865-173837874 chr1:173837841-173837850 chr1:173837868-173837877
28	EGR1	chr1:173837291-173837890	GM12878	blood:	n/a	chr1:173837378-173837391 chr1:173837729-173837742 chr1:173837614-173837624 chr1:173837729-173837742 chr1:173837616-173837630 chr1:173837418-173837431 chr1:173837380-173837390 chr1:173837777-173837790 chr1:173837834-173837844
29	NR2F2	chr1:173837205-173838206	MCF-7	breast:	n/a	n/a
30	POLR2A	chr1:173828332-173838242	K562	blood:	n/a	n/a
31	EGR1	chr1:173837000-173838126	H1-hESC	embryonic stem cell:	n/a	chr1:173837378-173837391 chr1:173837729-173837742 chr1:173837614-173837624 chr1:173837729-173837742 chr1:173837616-173837630 chr1:173837418-173837431 chr1:173837380-173837390 chr1:173837777-173837790 chr1:173837834-173837844
32	RELA	chr1:173836705-173838130	GM10847	blood:	n/a	n/a
33	SIN3AK20	chr1:173836166-173838356	K562	blood:	n/a	n/a
34	ESR1	chr1:173837419-173837795	T-47D	breast:	n/a	chr1:173837603-173837618
35	MYC	chr1:173834772-173838276	K562	blood:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
36	SP1	chr1:173836333-173838265	HCT-116	colon:	n/a	chr1:173837664-173837678 chr1:173837276-173837283 chr1:173837208-173837222 chr1:173837726-173837738 chr1:173837776-173837785 chr1:173837594-173837607 chr1:173837207-173837219 chr1:173837727-173837736 chr1:173837664-173837674 chr1:173837410-173837424 chr1:173837775-173837789 chr1:173837866-173837878 chr1:173837774-173837786 chr1:173837340-173837354 chr1:173837207-173837219 chr1:173837376-173837388 chr1:173837664-173837673 chr1:173837424-173837433 chr1:173837665-173837674 chr1:173837663-173837675 chr1:173837774-173837786 chr1:173837866-173837878 chr1:173837726-173837738 chr1:173837376-173837388 chr1:173837744-173837756 chr1:173837727-173837737 chr1:173837377-173837386
37	RXRA	chr1:173837682-173838074	GM12878	blood:	n/a	chr1:173837685-173837698 chr1:173837685-173837698
38	MAX	chr1:173836390-173838332	ECC-1	luminal epithelium:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
39	USF1	chr1:173836970-173837897	ECC-1	luminal epithelium:	n/a	chr1:173837842-173837858 chr1:173837832-173837848
40	ZBTB7A	chr1:173837635-173837858	HepG2	liver:	n/a	n/a
41	ZBTB7A	chr1:173837579-173837968	HepG2	liver:	n/a	n/a
42	JUND	chr1:173836568-173838332	K562	blood:	n/a	chr1:173837048-173837062 chr1:173837421-173837430 chr1:173837443-173837452 chr1:173837835-173837844 chr1:173837169-173837178
43	POLR2A	chr1:173836662-173837721	HepG2	liver:	n/a	n/a
44	HDAC2	chr1:173837239-173838010	K562	blood:	n/a	n/a
45	TCF12	chr1:173837308-173837730	H1-hESC	embryonic stem cell:	n/a	n/a
46	NFIC	chr1:173837363-173837744	HepG2	liver:	n/a	n/a
47	ELF1	chr1:173836795-173838092	GM12878	blood:	n/a	chr1:173837189-173837198 chr1:173837841-173837850 chr1:173837834-173837846 chr1:173837837-173837849 chr1:173837492-173837505 chr1:173837614-173837626
48	MAZ	chr1:173836702-173838381	HepG2	liver:	n/a	chr1:173837472-173837482 chr1:173837745-173837755 chr1:173837729-173837739
49	YY1	chr1:173836645-173838112	ECC-1	luminal epithelium:	n/a	chr1:173837836-173837850 chr1:173837835-173837846 chr1:173837838-173837847 chr1:173837770-173837784 chr1:173837865-173837874 chr1:173837841-173837850 chr1:173837868-173837877
50	POLR2A	chr1:173836264-173837744	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:145381488..145384463-chr1:173835687..173838502,2	K562	blood:
2	chr1:173835490..173838465-chr17:37025563..37027348,2	K562	blood:
3	chr1:173835651..173839404-chr1:173878959..173883807,5	K562	blood:
4	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
5	chr1:173837059..173837771-chr21:34143600..34144378,2	Hela-S3	cervix:
6	chr1:173836251..173838308-chr1:174127483..174129757,2	MCF-7	breast:
7	chr1:173837020..173839325-chr1:174127377..174129524,4	K562	blood:
8	chr1:173791090..173796578-chr1:173835400..173838797,13	MCF-7	breast:
9	chr1:173837529..173841751-chr1:173936779..173939459,3	K562	blood:
10	chr1:173834700..173840265-chr1:173989829..173994040,12	K562	blood:
11	chr1:173836407..173838525-chr7:5566132..5567901,2	K562	blood:
12	chr1:173789792..173811494-chr1:173827886..173840273,103	K562	blood:
13	chr1:173836703..173838445-chr8:99128546..99130878,2	MCF-7	breast:
14	chr1:173833761..173839509-chr1:173990118..173994234,9	K562	blood:
15	chr1:173835611..173838091-chr17:39844795..39846421,2	MCF-7	breast:
16	chr1:173837530..173839035-chr1:173886348..173888788,2	K562	blood:
17	chr1:173837007..173837990-chr3:10067643..10068259,2	Hela-S3	cervix:
18	chr1:173442552..173449186-chr1:173835087..173838637,8	MCF-7	breast:
19	chr1:173409411..173411609-chr1:173835982..173838430,2	K562	blood:
20	chr1:173682287..173685888-chr1:173836010..173838228,4	MCF-7	breast:
21	chr1:173835391..173837802-chr1:174127164..174130207,3	MCF-7	breast:
22	chr1:173835653..173838766-chr1:174968504..174972418,4	K562	blood:
23	chr1:173835729..173840438-chr1:174127915..174131019,7	K562	blood:
24	chr1:173836968..173838602-chr12:112818966..112820593,2	MCF-7	breast:
25	chr1:173684233..173685986-chr1:173834072..173838019,3	K562	blood:
26	chr1:173836908..173838741-chr16:18800092..18802872,2	MCF-7	breast:
27	chr1:173444678..173448018-chr1:173835571..173838629,5	K562	blood:
28	chr1:173792463..173795572-chr1:173835250..173839446,8	MCF-7	breast:
29	chr1:173835905..173838790-chr1:173929682..173932448,3	MCF-7	breast:
30	chr1:173831314..173839948-chr1:173984831..173993131,14	MCF-7	breast:
31	chr1:173837570..173838373-chr8:33370574..33371222,2	Hela-S3	cervix:
32	chr1:173837025..173837906-chr6:41039117..41039811,2	Hela-S3	cervix:
33	chr1:173832421..173839801-chr1:173885332..173891780,9	MCF-7	breast:
34	chr1:156630847..156631590-chr1:173836785..173837760,2	Hela-S3	cervix:
35	chr1:173834428..173840700-chr1:173878764..173885322,14	MCF-7	breast:
36	chr1:173837072..173837933-chr3:5021715..5022315,2	Hela-S3	cervix:
37	chr1:173831906..173839548-chr1:173987374..173993282,15	MCF-7	breast:
38	chr1:173836942..173837902-chr5:41904268..41905215,2	Hela-S3	cervix:
39	chr1:173835691..173838464-chr11:65269329..65272327,2	K562	blood:
40	chr1:173837007..173837944-chr7:108166225..108166744,2	Hela-S3	cervix:
41	chr1:173789473..173804179-chr1:173828884..173842109,95	K562	blood:
42	chr1:173833863..173839457-chr1:173910408..173918981,14	MCF-7	breast:
43	chr1:173806912..173810743-chr1:173835161..173838732,5	MCF-7	breast:
44	chr1:173835625..173838583-chr17:59475360..59477954,2	MCF-7	breast:

Variant related genes	Relation type
GAS5	TF binding region
SNORD78	TF binding region
ZBTB37	TF binding region
ENSG00000229953	Chromatin interaction
ENSG00000200755	Chromatin interaction
ENSG00000159086	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000002834	Chromatin interaction
ENSG00000104356	Chromatin interaction
ENSG00000152061	Chromatin interaction
ENSG00000203739	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000132541	Chromatin interaction
ENSG00000252231	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000134419	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000117601	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000124596	Chromatin interaction
ENSG00000227373	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000076321	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000134107	Chromatin interaction
ENSG00000117593	Chromatin interaction
ENSG00000144554	Chromatin interaction
ENSG00000173064	Chromatin interaction
ENSG00000239039	Chromatin interaction
ENSG00000117592	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000129696	Chromatin interaction
ENSG00000224977	Chromatin interaction
ENSG00000205765	Chromatin interaction
ENSG00000236535	Chromatin interaction
ENSG00000186162	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000116161	Chromatin interaction
ENSG00000121068	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1322769	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846397	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846483	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227612	0.90[YRI][hapmap]
rs2227620	1.00[AMR][1000 genomes]
rs57006357	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57343517	1.00[AMR][1000 genomes]
rs58576036	1.00[AMR][1000 genomes]
rs58930477	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59355797	1.00[AMR][1000 genomes]
rs59846661	1.00[AMR][1000 genomes]
rs6667627	1.00[AMR][1000 genomes]
rs6704413	1.00[AMR][1000 genomes]
rs73025612	1.00[AMR][1000 genomes]
rs73025620	1.00[AMR][1000 genomes]
rs73027407	1.00[AMR][1000 genomes]
rs73027443	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027460	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027463	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027464	1.00[AMR][1000 genomes]
rs73027488	1.00[AMR][1000 genomes]
rs73035116	1.00[AMR][1000 genomes]
rs73035134	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035139	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037097	1.00[AMR][1000 genomes]
rs73041050	1.00[AMR][1000 genomes]
rs73041059	1.00[AMR][1000 genomes]
rs7519571	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531236	1.00[AMR][1000 genomes]
rs7539992	1.00[AMR][1000 genomes]
rs7547873	0.80[AFR][1000 genomes];1.00[AMR][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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases
3	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 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	chr1:173833800-173838000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:173834200-173838400	Active TSS	Right Ventricle	heart
3	chr1:173834400-173838400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:173834600-173838600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:173834600-173838600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:173835000-173838600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:173835600-173838200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:173835600-173838200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:173835600-173838200	Active TSS	Lung	lung
10	chr1:173835600-173838200	Active TSS	Pancreas	Pancrea
11	chr1:173835600-173838600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:173835600-173838600	Active TSS	Colonic Mucosa	Colon
13	chr1:173835800-173838400	Active TSS	Esophagus	oesophagus
14	chr1:173835800-173838400	Active TSS	Psoas Muscle	Psoas
15	chr1:173835800-173838600	Active TSS	Thymus	Thymus
16	chr1:173836000-173838000	Active TSS	Fetal Kidney	kidney
17	chr1:173836000-173838000	Active TSS	Fetal Thymus	thymus
18	chr1:173836000-173838200	Active TSS	Gastric	stomach
19	chr1:173836000-173838200	Active TSS	Left Ventricle	heart
20	chr1:173836000-173838200	Active TSS	Small Intestine	intestine
21	chr1:173836000-173838400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:173836000-173838400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr1:173836000-173838400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:173836000-173838400	Active TSS	Aorta	Aorta
25	chr1:173836000-173838400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:173836000-173838400	Active TSS	Ovary	ovary
27	chr1:173836000-173838400	Active TSS	Stomach Mucosa	stomach
28	chr1:173836000-173838600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:173836000-173838600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr1:173836200-173838000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:173836200-173838000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:173836200-173838000	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr1:173836200-173838000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr1:173836200-173838000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr1:173836200-173838000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr1:173836200-173838000	Active TSS	HUVEC	blood vessel
37	chr1:173836200-173838200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:173836200-173838200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:173836200-173838200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:173836200-173838200	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr1:173836200-173838200	Active TSS	Hela-S3	cervix
42	chr1:173836200-173838200	Active TSS	HSMM	muscle
43	chr1:173836200-173838400	Active TSS	Fetal Heart	heart
44	chr1:173836200-173838400	Active TSS	HMEC	breast
45	chr1:173836200-173838600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:173836200-173838600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:173836200-173838600	Active TSS	Fetal Intestine Large	intestine
48	chr1:173836200-173838600	Active TSS	HSMMtube	muscle
49	chr1:173836200-173838800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:173836200-173838800	Active TSS	Duodenum Mucosa	Duodenum

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