Variant report

Variant	rs34370865
Chromosome Location	chr10:89624741-89624742
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	POLR2A	chr10:89623927-89625345	GM18526	blood:	n/a	n/a
2	GTF2F1	chr10:89624359-89624861	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr10:89624573-89624934	IMR90	lung:	n/a	chr10:89624748-89624759 chr10:89624824-89624835 chr10:89624824-89624835 chr10:89624748-89624761
4	MYC	chr10:89624513-89624773	MCF10A-Er-Src	breast:	n/a	chr10:89624751-89624760
5	POLR2A	chr10:89624027-89624796	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:89624028-89625101	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr10:89623973-89624791	IMR90	lung:	n/a	chr10:89624172-89624186
8	SIN3AK20	chr10:89624222-89624749	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr10:89620684-89625736	GM18951	blood:	n/a	n/a
10	KAP1	chr10:89624187-89624786	HEK293	kidney:	n/a	n/a
11	MXI1	chr10:89624279-89625222	Hela-S3	cervix:	n/a	n/a
12	EP300	chr10:89624376-89625191	Hela-S3	cervix:	n/a	chr10:89624749-89624763
13	POLR2A	chr10:89623882-89624834	GM12892	blood:	n/a	n/a
14	CEBPB	chr10:89624574-89624915	H1-hESC	embryonic stem cell:	n/a	chr10:89624748-89624759 chr10:89624824-89624835 chr10:89624824-89624835 chr10:89624748-89624761
15	MYC	chr10:89624486-89624748	MCF10A-Er-Src	breast:	n/a	n/a
16	TBP	chr10:89624148-89625879	Hela-S3	cervix:	n/a	n/a
17	RFX5	chr10:89624313-89625433	Hela-S3	cervix:	n/a	chr10:89624419-89624433 chr10:89624422-89624431
18	POLR2A	chr10:89624035-89625330	GM12878	blood:	n/a	n/a
19	POLR2A	chr10:89621025-89625212	GM12892	blood:	n/a	n/a
20	UBTF	chr10:89621334-89624845	K562	blood:	n/a	n/a
21	CHD1	chr10:89624160-89624743	H1-hESC	embryonic stem cell:	n/a	n/a
22	USF2	chr10:89624254-89624777	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr10:89624569-89624938	K562	blood:	n/a	chr10:89624748-89624759 chr10:89624824-89624835 chr10:89624824-89624835 chr10:89624748-89624761
24	MAFK	chr10:89624466-89625892	Hela-S3	cervix:	n/a	chr10:89625415-89625435 chr10:89625419-89625429
25	POLR2A	chr10:89621051-89624834	GM12892	blood:	n/a	n/a
26	CHD1	chr10:89624056-89627544	GM12878	blood:	n/a	n/a
27	CEBPB	chr10:89624612-89624926	HepG2	liver:	n/a	chr10:89624748-89624759 chr10:89624824-89624835 chr10:89624824-89624835 chr10:89624748-89624761
28	MXI1	chr10:89624140-89625085	GM12878	blood:	n/a	n/a
29	POLR2A	chr10:89621233-89625579	Hela-S3	cervix:	n/a	n/a
30	RFX5	chr10:89624629-89624866	GM12878	blood:	n/a	n/a
31	POLR2A	chr10:89621155-89625254	GM15510	blood:	n/a	n/a
32	GATA3	chr10:89624400-89624871	T-47D	breast:	n/a	n/a
33	POLR2A	chr10:89620859-89624802	GM19193	blood:	n/a	n/a
34	CHD1	chr10:89620818-89626993	IMR90	lung:	n/a	chr10:89623233-89623243 chr10:89623660-89623670
35	POLR2A	chr10:89624199-89624908	U87	brain:	n/a	n/a
36	REST	chr10:89623887-89624966	H1-neurons	neurons:	n/a	chr10:89624104-89624117
37	MTA3	chr10:89624039-89624856	GM12878	blood:	n/a	n/a
38	POLR2A	chr10:89624197-89624832	U87	brain:	n/a	n/a
39	POLR2A	chr10:89624126-89626009	GM12891	blood:	n/a	n/a
40	POLR2A	chr10:89621028-89624879	GM12878	blood:	n/a	n/a
41	CEBPB	chr10:89624607-89624904	A549	lung:	n/a	chr10:89624748-89624759 chr10:89624824-89624835 chr10:89624824-89624835 chr10:89624748-89624761
42	CEBPB	chr10:89624395-89625249	Hela-S3	cervix:	n/a	chr10:89624748-89624759 chr10:89624824-89624835 chr10:89624824-89624835 chr10:89625177-89625190 chr10:89624748-89624761
43	RAD21	chr10:89624300-89625230	Hela-S3	cervix:	n/a	n/a
44	TCF7L2	chr10:89624099-89624765	PANC-1	pancreas:	n/a	n/a
45	CEBPB	chr10:89624530-89624843	K562	blood:	n/a	chr10:89624748-89624759 chr10:89624824-89624835 chr10:89624824-89624835 chr10:89624748-89624761
46	POLR2A	chr10:89624025-89625822	GM12878	blood:	n/a	n/a
47	POLR2A	chr10:89624026-89624821	Raji	blood:	n/a	n/a
48	POLR2A	chr10:89624344-89626242	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr10:89620041-89625882	GM19099	blood:	n/a	n/a
50	POLR2A	chr10:89623978-89624912	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:89575231..89578479-chr10:89619975..89624868,8	K562	blood:
2	chr10:89577120..89579087-chr10:89622150..89625835,3	MCF-7	breast:
3	chr10:89621343..89626061-chr10:89634894..89638873,7	K562	blood:

Variant related genes	Relation type
KLLN	TF binding region
ENSG00000224745	Chromatin interaction
ENSG00000223820	Chromatin interaction
ENSG00000138138	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34140758	1.00[EUR][1000 genomes]
rs34144152	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34260450	1.00[EUR][1000 genomes]
rs34826144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34870602	1.00[AMR][1000 genomes]
rs35304862	1.00[AMR][1000 genomes]
rs35560700	1.00[AMR][1000 genomes]
rs35593536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35608752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60189638	1.00[EUR][1000 genomes]
rs7085552	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7896751	1.00[EUR][1000 genomes]
rs7897915	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7917439	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7917883	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9783193	1.00[AMR][1000 genomes]
rs9783236	1.00[AMR][1000 genomes]
rs9783238	1.00[AMR][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	nsv1041392	chr10:89615125-89632510	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1044700	chr10:89615125-89641293	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3424406	chr10:89621997-89625345	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr10:89620400-89628600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr10:89621000-89627000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr10:89621000-89627200	Active TSS	Brain Cingulate Gyrus	brain
4	chr10:89621000-89628000	Active TSS	Brain Hippocampus Middle	brain
5	chr10:89621000-89628600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:89621000-89628600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr10:89621200-89625800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:89621200-89625800	Active TSS	Left Ventricle	heart
9	chr10:89621200-89625800	Active TSS	Pancreas	Pancrea
10	chr10:89621200-89626400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:89621200-89626400	Active TSS	Fetal Brain Female	brain
12	chr10:89621200-89626800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr10:89621200-89627000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr10:89621200-89627400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:89621200-89628400	Active TSS	Fetal Stomach	stomach
16	chr10:89621200-89628800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr10:89621200-89628800	Active TSS	Fetal Kidney	kidney
18	chr10:89621200-89629000	Active TSS	Right Atrium	heart
19	chr10:89621200-89629000	Active TSS	Right Ventricle	heart
20	chr10:89621200-89630800	Active TSS	Aorta	Aorta
21	chr10:89621400-89625400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:89621400-89625800	Active TSS	Gastric	stomach
23	chr10:89621400-89625800	Active TSS	Small Intestine	intestine
24	chr10:89621400-89626200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr10:89621400-89626200	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr10:89621400-89626400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr10:89621400-89627200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:89621400-89627200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:89621400-89627200	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr10:89621400-89627600	Active TSS	Fetal Lung	lung
31	chr10:89621400-89628000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr10:89621400-89628200	Active TSS	Hela-S3	cervix
33	chr10:89621400-89628400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr10:89621400-89628400	Active TSS	Fetal Intestine Small	intestine
35	chr10:89621400-89628600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:89621400-89628600	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr10:89621400-89628600	Active TSS	HSMMtube	muscle
38	chr10:89621400-89628800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:89621400-89628800	Active TSS	Muscle Satellite Cultured Cells	--
40	chr10:89621400-89628800	Active TSS	Fetal Intestine Large	intestine
41	chr10:89621400-89628800	Active TSS	K562	blood
42	chr10:89621400-89629000	Active TSS	Psoas Muscle	Psoas
43	chr10:89621400-89629800	Active TSS	Ovary	ovary
44	chr10:89621600-89624800	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr10:89621600-89625400	Active TSS	Brain Substantia Nigra	brain
46	chr10:89621600-89625400	Active TSS	Stomach Mucosa	stomach
47	chr10:89621600-89625400	Bivalent/Poised TSS	HepG2	liver
48	chr10:89621600-89625600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:89621600-89625600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:89621600-89625800	Active TSS	Sigmoid Colon	Sigmoid Colon

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