Variant report

Variant	rs4075655
Chromosome Location	chr5:126114085-126114086
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	MAX	chr5:126112044-126114710	HCT-116	colon:	n/a	n/a
2	POLR2A	chr5:126111728-126114531	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr5:126111057-126115293	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:126112099-126114877	GM12878	blood:	n/a	n/a
5	TFAP2A	chr5:126113780-126114559	Hela-S3	cervix:	n/a	chr5:126114224-126114232 chr5:126114224-126114232 chr5:126114383-126114393 chr5:126114383-126114393 chr5:126114224-126114232 chr5:126114104-126114115 chr5:126114383-126114393 chr5:126113895-126113907
6	RELA	chr5:126111991-126114834	GM15510	blood:	n/a	n/a
7	MAX	chr5:126111958-126115083	NB4	blood:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915
8	E2F6	chr5:126113723-126114291	K562	blood:	n/a	chr5:126114123-126114133 chr5:126114123-126114134 chr5:126114124-126114131 chr5:126114123-126114131 chr5:126114124-126114132 chr5:126114124-126114135 chr5:126113879-126113888 chr5:126114124-126114132
9	RCOR1	chr5:126113795-126114531	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:126111237-126115281	GM12891	blood:	n/a	n/a
11	STAT3	chr5:126113922-126114268	MCF10A-Er-Src	breast:	n/a	chr5:126114065-126114077
12	POLR2A	chr5:126112012-126114517	HUVEC	blood vessel:	n/a	n/a
13	NFYA	chr5:126113920-126114210	K562	blood:	n/a	n/a
14	TAF1	chr5:126113767-126114172	GM12891	blood:	n/a	n/a
15	E2F4	chr5:126112118-126114460	Hela-S3	cervix:	n/a	chr5:126114123-126114133 chr5:126114123-126114134 chr5:126114124-126114131 chr5:126112178-126112193 chr5:126114123-126114131 chr5:126114124-126114132 chr5:126114124-126114135 chr5:126113879-126113888 chr5:126114124-126114132
16	NR2F2	chr5:126114000-126114777	K562	blood:	n/a	n/a
17	MAZ	chr5:126111857-126114511	IMR90	lung:	n/a	n/a
18	SIN3AK20	chr5:126113907-126114303	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr5:126111998-126114762	Hela-S3	cervix:	n/a	n/a
20	IRF1	chr5:126113699-126115141	K562	blood:	n/a	chr5:126114190-126114204
21	POLR2A	chr5:126111543-126115014	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr5:126112075-126114546	H1-neurons	neurons:	n/a	n/a
23	PML	chr5:126113307-126114570	K562	blood:	n/a	chr5:126114256-126114264
24	POU2F2	chr5:126112806-126114378	GM12891	blood:	n/a	chr5:126113593-126113605
25	FOXP2	chr5:126113794-126114400	SK-N-MC	brain:	n/a	n/a
26	RFX5	chr5:126112032-126114607	Hela-S3	cervix:	n/a	n/a
27	NFIC	chr5:126113715-126114259	GM12878	blood:	n/a	n/a
28	MAX	chr5:126112079-126114876	Hela-S3	cervix:	n/a	n/a
29	TAF1	chr5:126112201-126114448	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr5:126111809-126115016	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr5:126112100-126114978	K562	blood:	n/a	chr5:126114904-126114913 chr5:126114903-126114913 chr5:126114903-126114914 chr5:126114905-126114912 chr5:126114902-126114915
32	GABPA	chr5:126113854-126114113	Hela-S3	cervix:	n/a	chr5:126113876-126113890 chr5:126113942-126113951
33	TCF12	chr5:126113466-126114143	A549	lung:	n/a	chr5:126113910-126113917
34	TBP	chr5:126113385-126114700	Hela-S3	cervix:	n/a	n/a
35	REST	chr5:126113765-126114326	K562	blood:	n/a	chr5:126113827-126113840 chr5:126113914-126113924
36	BCLAF1	chr5:126113649-126114724	GM12878	blood:	n/a	chr5:126114636-126114643
37	CREB1	chr5:126113147-126114448	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr5:126113791-126114462	HepG2	liver:	n/a	n/a
39	SIN3A	chr5:126112177-126114981	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr5:126112077-126114480	HepG2	liver:	n/a	n/a
41	YY1	chr5:126112173-126114851	GM12878	blood:	n/a	chr5:126113598-126113607 chr5:126113596-126113607 chr5:126114644-126114652 chr5:126114010-126114021
42	ZNF143	chr5:126113413-126114449	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr5:126113851-126114245	HCT-116	colon:	n/a	chr5:126114010-126114021
44	SIN3AK20	chr5:126113911-126114446	A549	lung:	n/a	n/a
45	ELK1	chr5:126113893-126114277	K562	blood:	n/a	n/a
46	NFYB	chr5:126113887-126114235	Hela-S3	cervix:	n/a	n/a
47	TCF7L2	chr5:126112196-126114338	HCT-116	colon:	n/a	n/a
48	SP1	chr5:126113635-126114609	A549	lung:	n/a	chr5:126114028-126114039
49	TBP	chr5:126113725-126115270	GM12878	blood:	n/a	n/a
50	ZNF263	chr5:126111974-126114892	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:126113812..126114394-chr9:101983578..101984300,2	Hela-S3	cervix:
2	chr5:126113460..126114095-chr6:100016294..100016813,2	NB4	blood:
3	chr17:58468293..58469062-chr5:126113673..126114241,2	Hela-S3	cervix:
4	chr4:1713063..1714611-chr5:126112187..126114301,2	MCF-7	breast:
5	chr1:145516381..145516913-chr5:126113594..126114345,2	Hela-S3	cervix:
6	chr5:126058298..126059864-chr5:126113085..126115635,2	K562	blood:
7	chr5:126113643..126115692-chr5:126362942..126365785,2	K562	blood:
8	chr5:126112758..126116358-chr5:126145679..126148817,3	K562	blood:
9	chr15:67813363..67814051-chr5:126113588..126114222,2	Hela-S3	cervix:
10	chr2:47167775..47168512-chr5:126113908..126114776,2	Hela-S3	cervix:
11	chr1:161102526..161103311-chr5:126113505..126114227,2	Hela-S3	cervix:
12	chr5:126043269..126045941-chr5:126113391..126116296,2	K562	blood:
13	chr5:126089250..126100296-chr5:126109758..126119075,20	K562	blood:
14	chr5:125935173..125937987-chr5:126112507..126114226,2	MCF-7	breast:
15	chr5:126112502..126115238-chr5:126364683..126367658,2	MCF-7	breast:
16	chr17:62497199..62498046-chr5:126113613..126114144,2	Hela-S3	cervix:
17	chr5:126112473..126115233-chr5:126364397..126368675,4	K562	blood:
18	chr5:125929696..125932051-chr5:126112793..126114802,3	MCF-7	breast:
19	chr5:126113484..126114206-chr6:26157596..26158229,2	Hela-S3	cervix:
20	chr5:125943485..125947339-chr5:126112518..126115430,4	K562	blood:

Variant related genes	Relation type
ENSG00000251072	TF binding region
ENSG00000259673	Chromatin interaction
ENSG00000112237	Chromatin interaction
ENSG00000164904	Chromatin interaction
ENSG00000270195	Chromatin interaction
ENSG00000119523	Chromatin interaction
ENSG00000163950	Chromatin interaction
ENSG00000068724	Chromatin interaction
ENSG00000252185	Chromatin interaction
ENSG00000164902	Chromatin interaction
ENSG00000266241	Chromatin interaction
ENSG00000189227	Chromatin interaction
ENSG00000113368	Chromatin interaction
ENSG00000173926	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000131779	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10065951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10478753	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1912570	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2136878	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2941661	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2941666	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2941673	0.86[ASW][hapmap];0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2973583	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2973587	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2973588	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2973589	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2973596	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2973600	0.80[ASW][hapmap];0.96[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2973604	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2973886	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2973887	0.80[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2973890	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4267910	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391702	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs968355	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription 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 target site	36 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	chr5:126111200-126114400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:126111200-126114600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:126111200-126114600	Active TSS	NHLF	lung
4	chr5:126111200-126115000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:126111200-126115400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:126111200-126115800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr5:126111200-126115800	Active TSS	A549	lung
8	chr5:126111400-126114200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:126111400-126114400	Active TSS	Fetal Intestine Small	intestine
10	chr5:126111400-126114600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr5:126111400-126114800	Active TSS	NHDF-Ad	bronchial
12	chr5:126111400-126115000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:126111400-126115200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr5:126111400-126115200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr5:126111600-126114200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:126111600-126114400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:126111600-126114400	Active TSS	Fetal Lung	lung
18	chr5:126111600-126114400	Active TSS	HMEC	breast
19	chr5:126111600-126114400	Active TSS	HSMM	muscle
20	chr5:126111600-126114400	Active TSS	K562	blood
21	chr5:126111600-126114600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:126111600-126114600	Active TSS	Fetal Intestine Large	intestine
23	chr5:126111600-126114800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr5:126111600-126115000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr5:126111600-126116000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:126111600-126116000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:126111600-126116200	Active TSS	Thymus	Thymus
28	chr5:126111600-126116600	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr5:126111800-126114200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:126111800-126114200	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr5:126111800-126114200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr5:126111800-126114200	Active TSS	Fetal Muscle Trunk	muscle
33	chr5:126111800-126114200	Active TSS	Placenta	Placenta
34	chr5:126111800-126114400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:126111800-126114400	Active TSS	Brain Angular Gyrus	brain
36	chr5:126111800-126114400	Active TSS	Brain Hippocampus Middle	brain
37	chr5:126111800-126114400	Active TSS	Colon Smooth Muscle	Colon
38	chr5:126111800-126114400	Active TSS	Fetal Stomach	stomach
39	chr5:126111800-126114400	Active TSS	Rectal Smooth Muscle	rectum
40	chr5:126111800-126114400	Active TSS	HSMMtube	muscle
41	chr5:126111800-126114600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr5:126111800-126114600	Active TSS	Psoas Muscle	Psoas
43	chr5:126111800-126114600	Active TSS	Hela-S3	cervix
44	chr5:126111800-126115000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:126111800-126115000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:126111800-126116000	Active TSS	Fetal Kidney	kidney
47	chr5:126111800-126116400	Active TSS	GM12878-XiMat	blood
48	chr5:126112000-126114200	Active TSS	NH-A	brain
49	chr5:126112000-126114400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:126112000-126114400	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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