Variant report

Variant	rs10915890
Chromosome Location	chr1:226069388-226069389
allele	A/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	EGR1	chr1:226069229-226070077	K562	blood:	n/a	chr1:226069488-226069498 chr1:226069483-226069505 chr1:226069488-226069501 chr1:226069488-226069501 chr1:226069487-226069501 chr1:226069489-226069498 chr1:226069845-226069860 chr1:226069488-226069501 chr1:226069485-226069499 chr1:226069487-226069502 chr1:226069554-226069563 chr1:226069488-226069501
2	POLR2A	chr1:226069203-226071113	K562	blood:	n/a	n/a
3	UBTF	chr1:226069056-226069714	K562	blood:	n/a	n/a
4	TBL1XR1	chr1:226069185-226070577	K562	blood:	n/a	n/a
5	CHD2	chr1:226069384-226071033	K562	blood:	n/a	chr1:226070578-226070588
6	ZBTB7A	chr1:226068784-226070952	K562	blood:	n/a	chr1:226070384-226070395
7	ELF1	chr1:226069223-226070042	K562	blood:	n/a	chr1:226070008-226070017
8	MYC	chr1:226069214-226071116	K562	blood:	n/a	chr1:226070644-226070654
9	TCF12	chr1:226069377-226071229	A549	lung:	n/a	chr1:226069792-226069800 chr1:226069933-226069940 chr1:226070523-226070530
10	MAX	chr1:226069202-226069651	K562	blood:	n/a	n/a
11	UBTF	chr1:226069313-226071120	K562	blood:	n/a	n/a
12	ZBTB7A	chr1:226069182-226070413	K562	blood:	n/a	chr1:226070384-226070395
13	TFAP2C	chr1:226069164-226070942	Hela-S3	cervix:	n/a	chr1:226069573-226069588
14	ELF1	chr1:226069231-226070907	GM12878	blood:	n/a	chr1:226070008-226070017 chr1:226070143-226070152 chr1:226070357-226070366
15	JUND	chr1:226069257-226070584	K562	blood:	n/a	chr1:226069762-226069776 chr1:226070263-226070277
16	HEY1	chr1:226069239-226071026	K562	blood:	n/a	chr1:226070734-226070749
17	NR2F2	chr1:226068421-226070907	K562	blood:	n/a	n/a
18	POLR2A	chr1:226069239-226070667	PFSK-1	brain:	n/a	n/a
19	CHD2	chr1:226069350-226070363	Hela-S3	cervix:	n/a	n/a
20	YY1	chr1:226069344-226071024	K562	blood:	n/a	chr1:226070008-226070017 chr1:226070006-226070017 chr1:226070143-226070152 chr1:226070581-226070592 chr1:226069490-226069499
21	EGR1	chr1:226069366-226069614	GM12878	blood:	n/a	chr1:226069488-226069498 chr1:226069483-226069505 chr1:226069488-226069501 chr1:226069488-226069501 chr1:226069487-226069501 chr1:226069489-226069498 chr1:226069488-226069501 chr1:226069485-226069499 chr1:226069487-226069502 chr1:226069554-226069563 chr1:226069488-226069501
22	E2F6	chr1:226069172-226069642	K562	blood:	n/a	chr1:226069484-226069496
23	ZNF143	chr1:226069357-226069556	GM12878	blood:	n/a	chr1:226069503-226069521
24	GABPA	chr1:226069359-226069696	K562	blood:	n/a	n/a
25	ZC3H11A	chr1:226069101-226069392	K562	blood:	n/a	n/a
26	TEAD4	chr1:226069109-226071113	K562	blood:	n/a	n/a
27	POLR2A	chr1:226069368-226070931	MCF-7	breast:	n/a	n/a
28	SIN3AK20	chr1:226069317-226071147	MCF-7	breast:	n/a	n/a
29	POLR2A	chr1:226068894-226071165	H1-hESC	embryonic stem cell:	n/a	n/a
30	MTA3	chr1:226068766-226071109	GM12878	blood:	n/a	n/a
31	MXI1	chr1:226069319-226070989	GM12878	blood:	n/a	chr1:226070774-226070789
32	POLR2A	chr1:226069233-226069820	K562	blood:	n/a	n/a
33	EP300	chr1:226069320-226070198	T-47D	breast:	n/a	chr1:226070007-226070016
34	MXI1	chr1:226068728-226071124	IMR90	lung:	n/a	chr1:226069159-226069168 chr1:226070774-226070789
35	HDAC2	chr1:226069233-226069733	K562	blood:	n/a	n/a
36	EP300	chr1:226069266-226069717	K562	blood:	n/a	n/a
37	PML	chr1:226069317-226071064	K562	blood:	n/a	n/a
38	E2F6	chr1:226069227-226071043	K562	blood:	n/a	chr1:226070093-226070102 chr1:226069484-226069496 chr1:226070006-226070016 chr1:226070891-226070905
39	POLR2A	chr1:226069122-226071069	K562	blood:	n/a	n/a
40	POLR2A	chr1:226069383-226069784	HCT-116	colon:	n/a	n/a
41	TAL1	chr1:226069378-226069501	K562	blood:	n/a	n/a
42	RUNX3	chr1:226069266-226071044	GM12878	blood:	n/a	n/a
43	GABPA	chr1:226069278-226070485	K562	blood:	n/a	chr1:226070092-226070103 chr1:226070092-226070106 chr1:226070094-226070103
44	POLR2A	chr1:226069375-226069404	Hela-S3	cervix:	n/a	n/a
45	SIN3A	chr1:226069297-226069422	GM12878	blood:	n/a	n/a
46	MYC	chr1:226068943-226070965	K562	blood:	n/a	chr1:226070644-226070654
47	TAF1	chr1:226069356-226069726	K562	blood:	n/a	n/a
48	SIN3AK20	chr1:226069199-226070363	K562	blood:	n/a	n/a
49	POLR2A	chr1:226069359-226070381	HL-60	blood:	n/a	n/a
50	POLR2A	chr1:226069153-226069802	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:226063406..226070293-chr1:226107715..226112317,7	K562	blood:
2	chr1:226053217..226056086-chr1:226069002..226071584,2	MCF-7	breast:
3	chr1:226067757..226070388-chr1:226097360..226099727,2	MCF-7	breast:
4	chr1:226068960..226071215-chr11:62609040..62611080,2	MCF-7	breast:
5	chr1:225964533..225968744-chr1:226068261..226071590,3	MCF-7	breast:
6	chr1:226035721..226038687-chr1:226067702..226069898,2	K562	blood:
7	chr1:226032510..226034899-chr1:226069383..226071490,2	MCF-7	breast:
8	chr1:226053727..226055880-chr1:226069290..226070897,2	MCF-7	breast:
9	chr1:226068530..226073051-chr1:226075073..226079547,5	MCF-7	breast:
10	chr1:226069198..226071720-chr1:226149361..226151916,2	MCF-7	breast:
11	chr1:226047047..226048850-chr1:226067848..226071913,3	MCF-7	breast:
12	chr1:226067837..226071624-chr1:226184531..226189088,6	K562	blood:
13	chr1:226054269..226057848-chr1:226069122..226072255,3	K562	blood:
14	chr1:225963541..225967644-chr1:226069236..226073918,5	MCF-7	breast:
15	chr1:226067837..226069575-chr1:226185536..226187793,2	K562	blood:
16	chr1:226066440..226072029-chr1:226106315..226113044,10	MCF-7	breast:
17	chr1:226067470..226074101-chr1:226108823..226116408,13	MCF-7	breast:
18	chr1:226066914..226069709-chr1:226309865..226312651,2	K562	blood:

Variant related genes	Relation type
TMEM63A	TF binding region
ENSG00000213032	Chromatin interaction
ENSG00000243709	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000242861	Chromatin interaction
ENSG00000196187	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10915883	0.80[AFR][1000 genomes]
rs10915886	0.82[AFR][1000 genomes]
rs10915887	0.85[AFR][1000 genomes]
rs10915888	0.85[AFR][1000 genomes]
rs10915889	0.82[AFR][1000 genomes]
rs10915895	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12070110	0.82[AFR][1000 genomes]
rs12070816	0.82[AFR][1000 genomes]
rs12071072	0.87[AFR][1000 genomes]
rs12071104	0.87[AFR][1000 genomes]
rs12071413	0.82[AFR][1000 genomes]
rs12074209	0.84[AFR][1000 genomes]
rs12074247	0.84[AFR][1000 genomes]
rs12077174	0.80[AFR][1000 genomes]
rs12077562	0.82[AFR][1000 genomes]
rs12077565	0.82[AFR][1000 genomes]
rs12079891	0.85[AFR][1000 genomes]
rs12081742	0.89[AFR][1000 genomes]
rs12082207	0.89[AFR][1000 genomes]
rs12083928	0.82[AFR][1000 genomes]
rs12084714	0.82[AFR][1000 genomes]
rs12091106	0.82[AFR][1000 genomes]
rs12097377	0.89[AFR][1000 genomes]
rs35273824	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs35684337	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56112955	0.89[AFR][1000 genomes]
rs56325807	0.83[AFR][1000 genomes]
rs58852301	0.82[AFR][1000 genomes]
rs59728172	0.83[AFR][1000 genomes]
rs60739570	0.89[AFR][1000 genomes]
rs61304305	0.82[AFR][1000 genomes]
rs74150536	0.83[AFR][1000 genomes]
rs74150537	0.84[AFR][1000 genomes]
rs74150538	0.85[AFR][1000 genomes]
rs74150539	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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 target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	esv3354874	chr1:226069354-226072202	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 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	chr1:226065400-226069400	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr1:226066400-226070000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:226066600-226069400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr1:226066600-226069400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr1:226066800-226069400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr1:226067000-226069400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr1:226067000-226069600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr1:226067000-226070000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:226067200-226069400	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr1:226067200-226069400	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr1:226067200-226069800	Flanking Active TSS	Fetal Thymus	thymus
12	chr1:226067200-226070000	Flanking Active TSS	Dnd41	blood
13	chr1:226067200-226071000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:226067400-226069400	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr1:226067400-226069600	Flanking Active TSS	Liver	Liver
16	chr1:226067400-226069800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:226067600-226069400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr1:226067600-226069600	Enhancers	Fetal Heart	heart
19	chr1:226067800-226069400	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr1:226067800-226069400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr1:226067800-226069400	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr1:226067800-226069400	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr1:226067800-226069400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:226067800-226069400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr1:226067800-226069400	Flanking Active TSS	GM12878-XiMat	blood
26	chr1:226067800-226069600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr1:226067800-226069600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:226067800-226070000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr1:226067800-226070000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr1:226068000-226069400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:226068000-226069400	Flanking Active TSS	Fetal Lung	lung
32	chr1:226068000-226069800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr1:226068000-226069800	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr1:226068200-226069400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:226068200-226069400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:226068200-226069400	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr1:226068200-226069400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr1:226068200-226070000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:226068400-226069400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr1:226068400-226069400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:226068400-226069400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:226068400-226069600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr1:226068400-226069600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr1:226068600-226069400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:226068600-226069400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr1:226068600-226069400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
47	chr1:226068600-226069400	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr1:226068600-226069400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:226068600-226069400	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr1:226068600-226069400	Flanking Active TSS	Hela-S3	cervix

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