Variant report

Variant	rs73665043
Chromosome Location	chr8:11141614-11141615
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	POLR2A	chr8:11141569-11142929	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr8:11141588-11142683	GM15510	blood:	n/a	n/a
3	POLR2A	chr8:11141564-11142698	HUVEC	blood vessel:	n/a	n/a
4	HCFC1	chr8:11141536-11142757	K562	blood:	n/a	n/a
5	ATF3	chr8:11141566-11142139	A549	lung:	n/a	n/a
6	POLR2A	chr8:11141398-11142743	PBDE	blood:	n/a	n/a
7	FOSL2	chr8:11141582-11142165	A549	lung:	n/a	n/a
8	POLR2A	chr8:11141462-11142794	GM12892	blood:	n/a	n/a
9	GTF2F1	chr8:11141474-11142804	Hela-S3	cervix:	n/a	n/a
10	STAT5A	chr8:11141491-11142720	GM12878	blood:	n/a	chr8:11141568-11141580
11	TAF1	chr8:11141612-11142607	K562	blood:	n/a	n/a
12	SRF	chr8:11141589-11142163	MCF-7	breast:	n/a	n/a
13	ELF1	chr8:11141503-11142592	SK-N-SH	brain:	n/a	chr8:11142216-11142228 chr8:11141904-11141913 chr8:11141916-11141927 chr8:11141917-11141926
14	RUNX3	chr8:11141518-11142894	GM12878	blood:	n/a	n/a
15	GABPA	chr8:11141098-11142824	MCF-7	breast:	n/a	n/a
16	MYBL2	chr8:11141529-11142258	HepG2	liver:	n/a	n/a
17	SP4	chr8:11141559-11142219	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr8:11141494-11142838	PFSK-1	brain:	n/a	n/a
19	WRNIP1	chr8:11141440-11142125	GM12878	blood:	n/a	n/a
20	FOXM1	chr8:11141367-11142227	GM12878	blood:	n/a	n/a
21	FOXM1	chr8:11141554-11142179	GM12878	blood:	n/a	n/a
22	RCOR1	chr8:11141458-11142187	K562	blood:	n/a	n/a
23	MAZ	chr8:11141568-11143268	IMR90	lung:	n/a	n/a
24	RCOR1	chr8:11141524-11142625	GM12878	blood:	n/a	n/a
25	CBX3	chr8:11141418-11142487	K562	blood:	n/a	n/a
26	POLR2A	chr8:11141551-11142524	SK-N-MC	brain:	n/a	n/a
27	ZNF143	chr8:11141580-11142508	K562	blood:	n/a	n/a
28	BCL3	chr8:11141532-11142543	A549	lung:	n/a	chr8:11141762-11141769 chr8:11142378-11142391 chr8:11142210-11142223 chr8:11141990-11141999 chr8:11141903-11141912 chr8:11142211-11142224
29	TAF1	chr8:11141556-11142576	GM12878	blood:	n/a	n/a
30	TAF1	chr8:11141562-11142690	H1-hESC	embryonic stem cell:	n/a	n/a
31	GATA1	chr8:11141565-11142697	PBDE	blood:	n/a	chr8:11141760-11141772 chr8:11141758-11141774
32	ELF1	chr8:11141568-11142430	MCF-7	breast:	n/a	chr8:11142216-11142228 chr8:11141904-11141913 chr8:11141916-11141927 chr8:11141917-11141926
33	POLR2A	chr8:11141570-11142724	SK-N-SH	brain:	n/a	n/a
34	MAX	chr8:11141448-11142833	A549	lung:	n/a	n/a
35	POLR2A	chr8:11141601-11142662	HCT-116	colon:	n/a	n/a
36	ATF2	chr8:11141513-11142099	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr8:11141198-11142914	GM12878	blood:	n/a	n/a
38	ELF1	chr8:11141271-11142768	GM12878	blood:	n/a	chr8:11142216-11142228 chr8:11141904-11141913 chr8:11141916-11141927 chr8:11141495-11141506 chr8:11141917-11141926
39	ELF1	chr8:11141526-11142604	A549	lung:	n/a	chr8:11142216-11142228 chr8:11141904-11141913 chr8:11141916-11141927 chr8:11141917-11141926
40	GABPA	chr8:11141390-11142654	MCF-7	breast:	n/a	n/a
41	ELF1	chr8:11141506-11142685	K562	blood:	n/a	chr8:11142216-11142228 chr8:11141904-11141913 chr8:11141916-11141927 chr8:11141917-11141926
42	POLR2A	chr8:11141360-11142798	GM18951	blood:	n/a	n/a
43	ELF1	chr8:11141320-11142811	HCT-116	colon:	n/a	chr8:11142216-11142228 chr8:11141904-11141913 chr8:11141916-11141927 chr8:11141495-11141506 chr8:11141917-11141926
44	POLR2A	chr8:11141545-11142560	MCF10A-Er-Src	breast:	n/a	n/a
45	ZC3H11A	chr8:11141585-11142235	K562	blood:	n/a	n/a
46	BCL3	chr8:11141511-11142128	A549	lung:	n/a	chr8:11141762-11141769 chr8:11141990-11141999 chr8:11141903-11141912
47	POLR2A	chr8:11141532-11142830	U87	brain:	n/a	n/a
48	TCF12	chr8:11141298-11142785	A549	lung:	n/a	n/a
49	TAF1	chr8:11141598-11142524	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr8:11141520-11142586	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11057391..11059241-chr8:11140154..11142116,2	MCF-7	breast:
2	chr8:11141582..11144222-chr8:11248890..11251574,2	K562	blood:
3	chr8:11141452..11143588-chr8:11203845..11206287,2	MCF-7	breast:
4	chr8:11141122..11144782-chr8:11147545..11153235,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249316	TF binding region
MTMR9	TF binding region
ENSG00000199368	Chromatin interaction
ENSG00000171044	Chromatin interaction
ENSG00000255020	Chromatin interaction
ENSG00000154316	Chromatin interaction
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12115113	1.00[AMR][1000 genomes]
rs12115121	1.00[AMR][1000 genomes]
rs17153216	1.00[AMR][1000 genomes]
rs2117617	1.00[AMR][1000 genomes]
rs4483111	1.00[AMR][1000 genomes]
rs57332847	1.00[AMR][1000 genomes]
rs58758812	1.00[AMR][1000 genomes]
rs58797482	1.00[AMR][1000 genomes]
rs59310177	1.00[AMR][1000 genomes]
rs60959401	1.00[AMR][1000 genomes]
rs61752023	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6985292	1.00[AMR][1000 genomes]
rs73663108	1.00[AMR][1000 genomes]
rs73665042	1.00[AMR][1000 genomes]
rs73665044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7816547	1.00[AMR][1000 genomes]
rs7833051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7833217	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers 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	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr8:11141000-11141800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
2	chr8:11141000-11141800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:11141000-11141800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:11141000-11141800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr8:11141000-11142000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:11141000-11142600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr8:11141000-11143200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:11141000-11143200	Active TSS	NHLF	lung
9	chr8:11141000-11143400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:11141000-11143400	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr8:11141000-11143400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr8:11141000-11143400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:11141000-11143400	Active TSS	Psoas Muscle	Psoas
14	chr8:11141000-11143600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr8:11141200-11141800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:11141200-11141800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:11141200-11141800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr8:11141200-11141800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:11141200-11141800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr8:11141200-11141800	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr8:11141200-11141800	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr8:11141200-11141800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr8:11141200-11141800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr8:11141200-11141800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:11141200-11141800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr8:11141200-11141800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr8:11141200-11141800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr8:11141200-11141800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr8:11141200-11141800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr8:11141200-11141800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr8:11141200-11141800	Flanking Active TSS	Liver	Liver
32	chr8:11141200-11141800	Flanking Active TSS	Colonic Mucosa	Colon
33	chr8:11141200-11141800	Flanking Active TSS	Pancreas	Pancrea
34	chr8:11141200-11141800	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr8:11141200-11141800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr8:11141200-11141800	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr8:11141200-11141800	Flanking Active TSS	Dnd41	blood
38	chr8:11141200-11141800	Flanking Active TSS	HMEC	breast
39	chr8:11141200-11141800	Flanking Active TSS	HSMM	muscle
40	chr8:11141200-11141800	Flanking Active TSS	HUVEC	blood vessel
41	chr8:11141200-11141800	Flanking Active TSS	NH-A	brain
42	chr8:11141200-11142000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:11141200-11142000	Active TSS	Brain Germinal Matrix	brain
44	chr8:11141200-11142000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr8:11141200-11142800	Active TSS	Fetal Kidney	kidney
46	chr8:11141200-11143000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr8:11141200-11143000	Active TSS	Brain Anterior Caudate	brain
48	chr8:11141200-11143000	Active TSS	Fetal Intestine Large	intestine
49	chr8:11141200-11143000	Active TSS	Fetal Intestine Small	intestine
50	chr8:11141200-11143200	Flanking Active TSS	Primary hematopoietic stem cells	blood

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