Variant report

Variant	rs1821848
Chromosome Location	chr15:74833784-74833785
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	MYC	chr15:74833665-74833807	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr15:74833492-74833854	ECC-1	luminal epithelium:	n/a	n/a
3	MXI1	chr15:74832266-74834561	IMR90	lung:	n/a	n/a
4	POLR2A	chr15:74833491-74833839	SK-N-SH	brain:	n/a	n/a
5	HEY1	chr15:74833527-74833792	K562	blood:	n/a	chr15:74833565-74833580 chr15:74833609-74833624
6	CREB1	chr15:74833080-74833849	A549	lung:	n/a	n/a
7	MAZ	chr15:74833024-74833827	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr15:74833008-74834590	GM12892	blood:	n/a	n/a
9	TBP	chr15:74832778-74834476	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr15:74833475-74833871	K562	blood:	n/a	n/a
11	RFX5	chr15:74832941-74833813	Hela-S3	cervix:	n/a	n/a
12	SIN3AK20	chr15:74832703-74834510	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF143	chr15:74833167-74833804	GM12878	blood:	n/a	chr15:74833701-74833719
14	MAZ	chr15:74832343-74834928	IMR90	lung:	n/a	chr15:74834347-74834356
15	RUNX3	chr15:74833505-74834554	GM12878	blood:	n/a	n/a
16	GABPA	chr15:74832700-74833807	MCF-7	breast:	n/a	chr15:74833790-74833799 chr15:74833788-74833797 chr15:74833433-74833442
17	TAF1	chr15:74833032-74833834	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr15:74833048-74834139	H1-neurons	neurons:	n/a	n/a
19	RUNX3	chr15:74833505-74833802	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:74833058-74833849	HUVEC	blood vessel:	n/a	n/a
21	CCNT2	chr15:74832844-74833860	K562	blood:	n/a	chr15:74833433-74833442
22	TCF12	chr15:74832326-74833917	ECC-1	luminal epithelium:	n/a	n/a
23	MXI1	chr15:74832585-74833814	HepG2	liver:	n/a	n/a
24	TCF3	chr15:74833468-74833852	GM12878	blood:	n/a	chr15:74833754-74833764 chr15:74833749-74833762 chr15:74833718-74833731
25	REST	chr15:74833049-74834490	H1-neurons	neurons:	n/a	chr15:74833904-74833914
26	ELK4	chr15:74832763-74833805	Hela-S3	cervix:	n/a	chr15:74833296-74833307 chr15:74833545-74833554 chr15:74833546-74833554
27	POLR2A	chr15:74833552-74833892	U87	brain:	n/a	n/a
28	FOS	chr15:74832833-74833844	HUVEC	blood vessel:	n/a	chr15:74833649-74833663 chr15:74833434-74833443
29	POLR2A	chr15:74832475-74833967	Hela-S3	cervix:	n/a	n/a
30	RCOR1	chr15:74832749-74833879	K562	blood:	n/a	n/a
31	SIN3A	chr15:74832493-74834722	H1-hESC	embryonic stem cell:	n/a	chr15:74832959-74832967 chr15:74832960-74832969 chr15:74833905-74833914
32	POLR2A	chr15:74833502-74833837	HCT-116	colon:	n/a	n/a
33	MAX	chr15:74832934-74833844	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr15:74833476-74833866	PANC-1	pancreas:	n/a	n/a
35	TCF12	chr15:74832991-74833937	ECC-1	luminal epithelium:	n/a	n/a
36	ZEB1	chr15:74833530-74833819	GM12878	blood:	n/a	chr15:74833668-74833677 chr15:74833666-74833678
37	SIN3A	chr15:74832748-74834867	GM12878	blood:	n/a	chr15:74832959-74832967 chr15:74832960-74832969 chr15:74833905-74833914
38	FOXM1	chr15:74833754-74834779	GM12878	blood:	n/a	n/a
39	EGR1	chr15:74833139-74833918	K562	blood:	n/a	chr15:74833297-74833306 chr15:74833415-74833424 chr15:74833219-74833226 chr15:74833783-74833796 chr15:74833433-74833443 chr15:74833476-74833490 chr15:74833502-74833516
40	POLR2A	chr15:74832353-74833952	HepG2	liver:	n/a	n/a
41	E2F4	chr15:74832649-74833819	MCF10A-Er-Src	breast:	n/a	chr15:74833433-74833442 chr15:74833702-74833714 chr15:74833788-74833797 chr15:74833269-74833281 chr15:74833268-74833279
42	YY1	chr15:74833502-74833790	H1-hESC	embryonic stem cell:	n/a	n/a
43	GABPA	chr15:74832609-74833833	SK-N-SH	brain:	n/a	chr15:74833790-74833799 chr15:74833788-74833797 chr15:74833433-74833442
44	IRF1	chr15:74832940-74834659	K562	blood:	n/a	chr15:74834194-74834208 chr15:74833556-74833570 chr15:74833429-74833443
45	POLR2A	chr15:74833516-74834743	GM12878	blood:	n/a	n/a
46	POLR2A	chr15:74832497-74833816	Hela-S3	cervix:	n/a	n/a
47	ZBTB7A	chr15:74833494-74833980	K562	blood:	n/a	n/a
48	POLR2A	chr15:74832974-74833807	Gliobla	brain:	n/a	n/a
49	POLR2A	chr15:74832913-74833863	HUVEC	blood vessel:	n/a	n/a
50	CHD2	chr15:74833048-74833870	Hela-S3	cervix:	n/a	chr15:74833431-74833441

No.	Distal block	Cell Line	Cell type
1	chr15:74833358..74833979-chr15:74907910..74908942,3	Hela-S3	cervix:
2	chr15:74749825..74755412-chr15:74831975..74836764,7	K562	blood:
3	chr15:74831828..74838842-chr15:74904667..74909546,11	MCF-7	breast:
4	chr15:74831674..74835918-chr15:74904604..74909555,13	K562	blood:
5	chr15:74830417..74841177-chr15:74901572..74909407,24	K562	blood:
6	chr15:74831911..74834210-chr15:74881957..74884590,3	K562	blood:
7	chr15:74832995..74834922-chr15:75133837..75135469,2	K562	blood:
8	chr1:150551996..150552577-chr15:74833132..74834047,2	Hela-S3	cervix:
9	chr15:74832872..74835682-chr15:74898201..74900978,2	K562	blood:
10	chr15:74831500..74835189-chr15:74905877..74910530,15	MCF-7	breast:
11	chr15:74833323..74833881-chr3:179280419..179281179,2	Hela-S3	cervix:
12	chr15:74751343..74754967-chr15:74831975..74835233,5	K562	blood:
13	chr15:74781188..74783962-chr15:74831156..74833818,2	K562	blood:
14	chr15:74752565..74755217-chr15:74831873..74834547,2	MCF-7	breast:

Variant related genes	Relation type
ARID3B	TF binding region
ENSG00000247240	Chromatin interaction
ENSG00000179361	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000212279	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000136518	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000261775	Chromatin interaction
ENSG00000138629	Chromatin interaction
ENSG00000260103	Chromatin interaction
ENSG00000260919	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10459648	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11072490	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11072492	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11072493	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11072494	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11072495	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11629946	0.88[AMR][1000 genomes]
rs11854226	0.81[EUR][1000 genomes]
rs11857328	0.81[EUR][1000 genomes]
rs12437519	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12439113	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12441932	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12442013	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12442097	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12591603	0.83[EUR][1000 genomes]
rs12594447	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12909573	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16969612	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1821847	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2068982	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2415241	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2415242	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4073149	0.81[AFR][1000 genomes]
rs4261483	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4278699	0.82[EUR][1000 genomes]
rs4886601	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4887154	0.81[EUR][1000 genomes]
rs4887155	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4887159	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4887160	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4887162	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4887163	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4887166	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56369998	0.80[EUR][1000 genomes]
rs58473469	0.83[AMR][1000 genomes]
rs6495108	0.83[EUR][1000 genomes]
rs6495109	0.83[EUR][1000 genomes]
rs6495115	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6495117	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6495118	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7166656	0.86[EUR][1000 genomes]
rs7167655	0.86[EUR][1000 genomes]
rs7171838	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7173006	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7176095	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7177407	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7178219	0.83[EUR][1000 genomes]
rs7178568	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs74025818	0.80[AMR][1000 genomes]
rs8023479	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8023865	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8025976	0.84[EUR][1000 genomes]
rs8026181	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8026923	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8027066	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8028163	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8028430	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8029116	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8029215	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8036636	0.93[AMR][1000 genomes]
rs8037074	0.83[AMR][1000 genomes]
rs8037436	0.83[EUR][1000 genomes]
rs8037714	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8038730	0.82[EUR][1000 genomes]
rs8040745	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8041030	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8041807	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8042832	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8043082	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9635320	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 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	chr15:74832000-74834200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:74832000-74836200	Active TSS	GM12878-XiMat	blood
3	chr15:74832200-74834200	Active TSS	A549	lung
4	chr15:74832200-74834200	Active TSS	K562	blood
5	chr15:74832200-74834600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr15:74832200-74834600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr15:74832200-74834600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr15:74832200-74834600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr15:74832200-74835000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr15:74832200-74835000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr15:74832200-74835000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:74832400-74834200	Active TSS	NHDF-Ad	bronchial
13	chr15:74832400-74834400	Active TSS	Colonic Mucosa	Colon
14	chr15:74832400-74834400	Active TSS	HMEC	breast
15	chr15:74832400-74834800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:74832400-74835000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:74832400-74835000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr15:74832400-74835000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:74832400-74835000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr15:74832400-74835200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:74832400-74835600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:74832600-74833800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:74832600-74834000	Active TSS	HSMM	muscle
24	chr15:74832600-74834200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:74832600-74834200	Active TSS	Placenta Amnion	Placenta Amnion
26	chr15:74832600-74834800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:74832600-74834800	Active TSS	Fetal Intestine Small	intestine
28	chr15:74832600-74835000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr15:74832600-74835000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:74832800-74833800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:74832800-74833800	Active TSS	Dnd41	blood
32	chr15:74832800-74834000	Active TSS	Ovary	ovary
33	chr15:74832800-74834200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:74832800-74834200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:74832800-74834200	Active TSS	Lung	lung
36	chr15:74832800-74834200	Active TSS	Stomach Mucosa	stomach
37	chr15:74832800-74834200	Active TSS	NHEK	skin
38	chr15:74832800-74834400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:74832800-74834400	Active TSS	Aorta	Aorta
40	chr15:74832800-74834400	Active TSS	Fetal Brain Female	brain
41	chr15:74832800-74834400	Active TSS	Fetal Kidney	kidney
42	chr15:74832800-74834400	Active TSS	Small Intestine	intestine
43	chr15:74832800-74834400	Bivalent/Poised TSS	HepG2	liver
44	chr15:74832800-74834600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:74832800-74834600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:74832800-74834600	Active TSS	Esophagus	oesophagus
47	chr15:74832800-74834600	Active TSS	Fetal Intestine Large	intestine
48	chr15:74832800-74834600	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr15:74832800-74834800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr15:74833000-74833800	Active TSS	Primary monocytes fromperipheralblood	blood

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