Variant report

Variant	rs73100512
Chromosome Location	chr1:226187129-226187130
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	GATA2	chr1:226186843-226187716	SH-SY5Y	brain:	n/a	chr1:226187217-226187224 chr1:226187214-226187228 chr1:226187214-226187226 chr1:226187206-226187223 chr1:226187215-226187225 chr1:226187215-226187224
2	SIN3AK20	chr1:226186783-226187421	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr1:226186766-226187454	Hela-S3	cervix:	n/a	n/a
4	NFIC	chr1:226186773-226187907	GM12878	blood:	n/a	n/a
5	YY1	chr1:226186862-226187178	HCT-116	colon:	n/a	chr1:226187163-226187172
6	MYC	chr1:226186827-226187939	K562	blood:	n/a	chr1:226187820-226187829
7	TBP	chr1:226186303-226188039	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:226186696-226187555	MCF-7	breast:	n/a	n/a
9	MEF2A	chr1:226186832-226187679	GM12878	blood:	n/a	chr1:226187399-226187413 chr1:226187400-226187411 chr1:226187398-226187413
10	POLR2A	chr1:226186336-226188266	GM12891	blood:	n/a	n/a
11	ZMIZ1	chr1:226186791-226188183	K562	blood:	n/a	n/a
12	RAD21	chr1:226186876-226187498	SK-N-SH_RA	brain:	n/a	chr1:226187134-226187144
13	YY1	chr1:226186685-226187509	ECC-1	luminal epithelium:	n/a	chr1:226186833-226186847 chr1:226187163-226187172
14	ATF3	chr1:226186901-226187134	GM12878	blood:	n/a	chr1:226187071-226187091
15	YY1	chr1:226186790-226187179	GM12892	blood:	n/a	chr1:226186833-226186847 chr1:226187163-226187172
16	POLR2A	chr1:226186724-226187604	A549	lung:	n/a	n/a
17	REST	chr1:226186340-226188068	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr1:226186261-226188138	K562	blood:	n/a	n/a
19	POLR2A	chr1:226186800-226187458	HepG2	liver:	n/a	n/a
20	JUND	chr1:226186811-226187510	A549	lung:	n/a	n/a
21	POLR2A	chr1:226186797-226187526	ECC-1	luminal epithelium:	n/a	n/a
22	FOSL1	chr1:226186794-226187498	K562	blood:	n/a	n/a
23	SP4	chr1:226186794-226187451	H1-hESC	embryonic stem cell:	n/a	chr1:226187131-226187142 chr1:226187183-226187194 chr1:226187100-226187116
24	NR2F2	chr1:226186724-226188210	K562	blood:	n/a	n/a
25	POLR2A	chr1:226186610-226187711	U87	brain:	n/a	n/a
26	CEBPB	chr1:226187083-226187693	GM12878	blood:	n/a	n/a
27	MAZ	chr1:226186816-226187556	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr1:226186738-226187542	MCF-7	breast:	n/a	n/a
29	ELF1	chr1:226186799-226187732	K562	blood:	n/a	chr1:226187475-226187484 chr1:226187476-226187485
30	POLR2A	chr1:226187129-226187466	A549	lung:	n/a	n/a
31	MAFK	chr1:226186964-226187403	HepG2	liver:	n/a	n/a
32	YY1	chr1:226186714-226187188	H1-hESC	embryonic stem cell:	n/a	chr1:226186833-226186847 chr1:226187163-226187172
33	SRF	chr1:226186923-226187374	GM12878	blood:	n/a	chr1:226187282-226187297 chr1:226187104-226187114
34	POLR2A	chr1:226186735-226187596	U87	brain:	n/a	n/a
35	EP300	chr1:226186964-226187373	HepG2	liver:	n/a	chr1:226187164-226187180
36	REST	chr1:226186734-226187602	PFSK-1	brain:	n/a	n/a
37	ELF1	chr1:226186839-226187658	SK-N-SH	brain:	n/a	chr1:226187475-226187484 chr1:226187476-226187485
38	THAP1	chr1:226186929-226187358	K562	blood:	n/a	n/a
39	SP1	chr1:226186667-226187595	A549	lung:	n/a	chr1:226186807-226186819 chr1:226187128-226187137 chr1:226187103-226187112 chr1:226187127-226187141 chr1:226187133-226187142 chr1:226187103-226187113 chr1:226187102-226187114 chr1:226186809-226186818 chr1:226187126-226187138 chr1:226187103-226187117 chr1:226187102-226187114 chr1:226187265-226187274 chr1:226187131-226187142 chr1:226187126-226187138 chr1:226187104-226187113 chr1:226187143-226187152 chr1:226187180-226187194 chr1:226187103-226187113 chr1:226187183-226187194 chr1:226186807-226186819 chr1:226186808-226186817 chr1:226187103-226187112 chr1:226187184-226187193
40	KAP1	chr1:226186794-226188003	HEK293	kidney:	n/a	chr1:226187604-226187612
41	POU2F2	chr1:226186656-226187134	GM12891	blood:	n/a	n/a
42	CREB1	chr1:226186624-226188103	GM12878	blood:	n/a	n/a
43	PML	chr1:226186575-226188264	GM12878	blood:	n/a	chr1:226187604-226187612 chr1:226188020-226188028
44	CTCF	chr1:226186874-226187525	GM12878	blood:	n/a	n/a
45	EGR1	chr1:226186857-226187833	K562	blood:	n/a	chr1:226187163-226187173 chr1:226187180-226187194 chr1:226187207-226187221
46	YY1	chr1:226186693-226187721	GM12878	blood:	n/a	chr1:226186833-226186847 chr1:226187163-226187172
47	POLR2A	chr1:226186780-226187569	H1-hESC	embryonic stem cell:	n/a	n/a
48	E2F6	chr1:226186883-226187480	K562	blood:	n/a	chr1:226187163-226187172 chr1:226187051-226187061
49	FOXM1	chr1:226186701-226188043	GM12878	blood:	n/a	n/a
50	TAF1	chr1:226186850-226187498	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:225964273..225967291-chr1:226184778..226188048,4	K562	blood:
2	chr1:226186529..226187341-chr1:226250082..226250899,2	MCF-7	breast:
3	chr1:226186326..226187179-chr1:226374081..226375039,2	K562	blood:
4	chr1:226185497..226187877-chr1:226269946..226272750,2	MCF-7	breast:
5	chr1:226183087..226192322-chr1:226243551..226254243,95	K562	blood:
6	chr1:226184976..226187995-chr1:226271007..226274594,3	K562	blood:
7	chr1:226110464..226115809-chr1:226185735..226190763,7	K562	blood:
8	chr1:226067837..226071624-chr1:226184531..226189088,6	K562	blood:
9	chr1:226186793..226187364-chr17:34136474..34137160,2	Hela-S3	cervix:
10	chr1:225963989..225965773-chr1:226185779..226187510,2	K562	blood:
11	chr1:226183029..226192481-chr1:226247725..226253108,31	MCF-7	breast:
12	chr1:226184876..226191468-chr1:226247585..226254254,12	MCF-7	breast:
13	chr1:226186767..226187502-chr16:89984994..89985496,2	Hela-S3	cervix:
14	chr1:226186952..226187788-chr10:105991609..105992305,2	Hela-S3	cervix:
15	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:
16	chr1:225965401..225967311-chr1:226185341..226187298,3	MCF-7	breast:
17	chr1:226186794..226187828-chr1:226250346..226251520,3	NB4	blood:
18	chr1:226186988..226187521-chr6:26123291..26124231,2	HCT-116	colon:
19	chr1:226108702..226117785-chr1:226183554..226190529,14	K562	blood:

Variant related genes	Relation type
SDE2	TF binding region
ENSG00000197748	Chromatin interaction
ENSG00000196187	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000182827	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000256390	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000172660	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11586667	0.89[EUR][1000 genomes]
rs11590226	0.90[EUR][1000 genomes]
rs11808474	0.90[EUR][1000 genomes]
rs11809941	0.90[EUR][1000 genomes]
rs16845468	0.90[EUR][1000 genomes]
rs1885254	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1998273	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2755092	0.89[EUR][1000 genomes]
rs2755097	0.89[EUR][1000 genomes]
rs2755100	0.83[EUR][1000 genomes]
rs2816323	0.81[EUR][1000 genomes]
rs2816324	0.81[EUR][1000 genomes]
rs2816328	0.86[EUR][1000 genomes]
rs66514719	0.90[EUR][1000 genomes]
rs66791434	0.90[EUR][1000 genomes]
rs66934363	0.90[EUR][1000 genomes]
rs67269884	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67523369	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72757041	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73100535	0.90[EUR][1000 genomes]
rs7554619	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226185000-226187400	Active TSS	K562	blood
2	chr1:226185200-226187800	Active TSS	Psoas Muscle	Psoas
3	chr1:226185400-226187600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:226185600-226187400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:226185600-226187400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:226185600-226187400	Active TSS	Muscle Satellite Cultured Cells	--
7	chr1:226185600-226187400	Active TSS	A549	lung
8	chr1:226185600-226187600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:226185600-226188000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:226185600-226188200	Active TSS	Stomach Smooth Muscle	stomach
11	chr1:226185800-226187400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:226185800-226187400	Active TSS	Pancreas	Pancrea
13	chr1:226185800-226187400	Active TSS	HSMM	muscle
14	chr1:226185800-226187400	Active TSS	HSMMtube	muscle
15	chr1:226185800-226187400	Active TSS	NH-A	brain
16	chr1:226185800-226187400	Active TSS	NHDF-Ad	bronchial
17	chr1:226185800-226187600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr1:226185800-226187600	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:226185800-226187600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:226185800-226187600	Active TSS	Lung	lung
21	chr1:226185800-226187800	Active TSS	Esophagus	oesophagus
22	chr1:226185800-226188000	Active TSS	Right Atrium	heart
23	chr1:226185800-226188200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:226186000-226187400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:226186000-226187400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:226186000-226187400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:226186000-226187400	Active TSS	Fetal Thymus	thymus
28	chr1:226186000-226187400	Active TSS	GM12878-XiMat	blood
29	chr1:226186000-226187400	Active TSS	NHLF	lung
30	chr1:226186000-226187600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr1:226186000-226187600	Active TSS	Colonic Mucosa	Colon
32	chr1:226186000-226187600	Bivalent/Poised TSS	HepG2	liver
33	chr1:226186000-226187800	Active TSS	Ovary	ovary
34	chr1:226186000-226187800	Active TSS	Right Ventricle	heart
35	chr1:226186000-226188000	Active TSS	Aorta	Aorta
36	chr1:226186000-226188200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:226186000-226188200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:226186200-226187400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:226186200-226187400	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr1:226186200-226187400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:226186200-226187400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:226186200-226187400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:226186200-226187400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:226186200-226187400	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr1:226186200-226187400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:226186200-226187400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:226186200-226187400	Active TSS	Fetal Intestine Large	intestine
48	chr1:226186200-226187400	Active TSS	Fetal Muscle Trunk	muscle
49	chr1:226186200-226187400	Active TSS	Left Ventricle	heart
50	chr1:226186200-226187400	Active TSS	Sigmoid Colon	Sigmoid Colon

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