Variant report

Variant	rs59410931
Chromosome Location	chr10:99447388-99447389
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	PAX5	chr10:99446970-99447410	GM12878	blood:	n/a	n/a
2	MAX	chr10:99446460-99447711	MCF-7	breast:	n/a	chr10:99447087-99447097 chr10:99447062-99447072 chr10:99447395-99447404 chr10:99447395-99447405
3	YY1	chr10:99446876-99447463	GM12892	blood:	n/a	chr10:99447366-99447380 chr10:99447082-99447091
4	BHLHE40	chr10:99447145-99447453	HepG2	liver:	n/a	n/a
5	NR3C1	chr10:99447056-99447557	A549	lung:	n/a	n/a
6	ZC3H11A	chr10:99447016-99447388	K562	blood:	n/a	n/a
7	SIN3AK20	chr10:99446183-99447674	PANC-1	pancreas:	n/a	n/a
8	TCF12	chr10:99445917-99448668	A549	lung:	n/a	n/a
9	EP300	chr10:99446932-99447489	GM12878	blood:	n/a	chr10:99447294-99447310 chr10:99447270-99447286
10	USF1	chr10:99447129-99447623	A549	lung:	n/a	chr10:99447330-99447341
11	POLR2A	chr10:99446975-99447812	HL-60	blood:	n/a	n/a
12	GABPA	chr10:99446938-99447557	A549	lung:	n/a	chr10:99447370-99447379 chr10:99447082-99447091
13	CREB1	chr10:99446684-99447730	HepG2	liver:	n/a	n/a
14	BCL3	chr10:99446650-99447870	A549	lung:	n/a	chr10:99447082-99447095 chr10:99447366-99447379 chr10:99447143-99447152
15	EGR1	chr10:99446812-99447486	H1-hESC	embryonic stem cell:	n/a	chr10:99447062-99447077 chr10:99447276-99447286 chr10:99447194-99447208 chr10:99447088-99447098 chr10:99447082-99447092 chr10:99447155-99447170 chr10:99447157-99447171 chr10:99447156-99447169 chr10:99447156-99447169 chr10:99447156-99447169
16	TBL1XR1	chr10:99446982-99448314	K562	blood:	n/a	n/a
17	EP300	chr10:99446989-99447732	HepG2	liver:	n/a	chr10:99447294-99447310 chr10:99447270-99447286
18	BHLHE40	chr10:99446821-99447596	HepG2	liver:	n/a	n/a
19	HEY1	chr10:99446631-99448474	HepG2	liver:	n/a	chr10:99447233-99447242
20	RFX5	chr10:99447084-99447749	K562	blood:	n/a	n/a
21	SIN3AK20	chr10:99446828-99447497	SK-N-SH	brain:	n/a	n/a
22	CREB1	chr10:99446999-99447570	ECC-1	luminal epithelium:	n/a	n/a
23	SP4	chr10:99446757-99447559	H1-hESC	embryonic stem cell:	n/a	chr10:99447156-99447172 chr10:99447158-99447174 chr10:99447063-99447079 chr10:99447080-99447096 chr10:99447065-99447081
24	POLR2A	chr10:99446773-99447536	GM19193	blood:	n/a	n/a
25	MBD4	chr10:99446704-99447700	HepG2	liver:	n/a	n/a
26	POLR2A	chr10:99446514-99448595	Hela-S3	cervix:	n/a	n/a
27	ELF1	chr10:99446660-99447448	A549	lung:	n/a	chr10:99447082-99447094 chr10:99447088-99447100 chr10:99447173-99447185
28	ATF3	chr10:99447077-99447489	K562	blood:	n/a	chr10:99447232-99447243 chr10:99447230-99447241 chr10:99447232-99447252 chr10:99447232-99447246 chr10:99447082-99447091 chr10:99447233-99447240
29	ZBTB33	chr10:99446723-99447509	HCT-116	colon:	n/a	chr10:99447267-99447277
30	USF1	chr10:99446574-99447757	HCT-116	colon:	n/a	chr10:99447330-99447341
31	EP300	chr10:99446793-99447741	HepG2	liver:	n/a	chr10:99447294-99447310 chr10:99447270-99447286
32	HCFC1	chr10:99446892-99447546	K562	blood:	n/a	n/a
33	GATA1	chr10:99446718-99447484	PBDE	blood:	n/a	n/a
34	POLR2A	chr10:99446768-99447893	K562	blood:	n/a	n/a
35	YY1	chr10:99446949-99447503	HCT-116	colon:	n/a	chr10:99447366-99447380 chr10:99447082-99447091
36	ELF1	chr10:99446468-99447561	GM12878	blood:	n/a	chr10:99447082-99447094 chr10:99447088-99447100 chr10:99447173-99447185
37	SRF	chr10:99446702-99447528	MCF-7	breast:	n/a	n/a
38	POLR2A	chr10:99446771-99447957	HCT-116	colon:	n/a	n/a
39	KAP1	chr10:99446150-99448574	HEK293	kidney:	n/a	n/a
40	TEAD4	chr10:99447079-99447721	SK-N-SH	brain:	n/a	n/a
41	ZBTB7A	chr10:99446901-99447495	K562	blood:	n/a	chr10:99446951-99446960
42	POLR2A	chr10:99447229-99447521	A549	lung:	n/a	n/a
43	USF1	chr10:99446911-99447559	A549	lung:	n/a	chr10:99447330-99447341
44	ELF1	chr10:99446708-99447565	MCF-7	breast:	n/a	chr10:99447082-99447094 chr10:99447088-99447100 chr10:99447173-99447185
45	CBX3	chr10:99446675-99447851	K562	blood:	n/a	n/a
46	POLR2A	chr10:99446301-99448203	PBDE	blood:	n/a	n/a
47	EP300	chr10:99446974-99447436	SK-N-SH_RA	brain:	n/a	chr10:99447294-99447310 chr10:99447270-99447286
48	POLR2A	chr10:99446750-99447550	GM19099	blood:	n/a	n/a
49	TEAD4	chr10:99446885-99447612	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr10:99446560-99447512	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:99447210..99448718-chr10:99495908..99497719,2	K562	blood:
2	chr10:99391497..99393437-chr10:99445445..99447604,2	MCF-7	breast:
3	chr10:99447208..99447737-chr2:88315131..88316112,2	Hela-S3	cervix:
4	chr10:99433977..99435889-chr10:99447100..99448771,2	K562	blood:
5	chr10:99446145..99449629-chr10:99495749..99499452,3	K562	blood:
6	chr10:99446266..99448824-chr10:99470047..99473651,4	K562	blood:
7	chr10:99445750..99450066-chr10:99494053..99497713,5	MCF-7	breast:
8	chr10:99444910..99448624-chr10:99472151..99475238,4	K562	blood:
9	chr10:99446264..99449966-chr10:99495266..99498485,3	MCF-7	breast:
10	chr10:99447143..99447756-chr7:148822736..148823441,2	Hela-S3	cervix:
11	chr10:99399087..99401527-chr10:99446729..99449313,3	MCF-7	breast:
12	chr10:99442762..99448311-chr10:99470830..99475549,8	MCF-7	breast:
13	chr10:99447297..99448187-chr20:30192642..30193144,2	Hela-S3	cervix:
14	chr10:99443080..99453237-chr10:99471420..99478243,12	MCF-7	breast:

Variant related genes	Relation type
AVPI1	TF binding region
ENSG00000155252	Chromatin interaction
ENSG00000222724	Chromatin interaction
ENSG00000171160	Chromatin interaction
ENSG00000240877	Chromatin interaction
ENSG00000204947	Chromatin interaction
ENSG00000155254	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000155256	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11556394	1.00[AMR][1000 genomes]
rs56818599	1.00[AMR][1000 genomes]
rs58040561	1.00[AMR][1000 genomes]
rs58090494	1.00[AMR][1000 genomes]
rs59403844	1.00[AMR][1000 genomes]
rs6584150	1.00[AMR][1000 genomes]
rs7086155	1.00[AMR][1000 genomes]
rs73322513	1.00[AMR][1000 genomes]
rs73322524	1.00[AMR][1000 genomes]
rs73322563	1.00[AMR][1000 genomes]
rs73324603	1.00[AMR][1000 genomes]
rs73324645	1.00[AMR][1000 genomes]
rs73324684	1.00[AMR][1000 genomes]
rs73324696	1.00[AMR][1000 genomes]
rs73326503	1.00[AMR][1000 genomes]
rs73326520	1.00[AMR][1000 genomes]
rs73326524	1.00[AMR][1000 genomes]
rs73332794	1.00[AMR][1000 genomes]
rs73332796	1.00[AMR][1000 genomes]
rs73334504	1.00[AMR][1000 genomes]
rs73334529	1.00[AMR][1000 genomes]
rs73334558	1.00[AMR][1000 genomes]
rs73334560	1.00[AMR][1000 genomes]
rs73334562	1.00[AMR][1000 genomes]
rs73334566	1.00[AMR][1000 genomes]
rs74155508	1.00[AMR][1000 genomes]
rs7914710	1.00[AMR][1000 genomes]
rs7915140	1.00[AMR][1000 genomes]

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	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1045292	chr10:99411153-99450861	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 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	chr10:99443800-99447400	Active TSS	Right Ventricle	heart
2	chr10:99444200-99447400	Active TSS	Fetal Intestine Large	intestine
3	chr10:99444600-99447400	Active TSS	Right Atrium	heart
4	chr10:99444600-99447600	Active TSS	Esophagus	oesophagus
5	chr10:99444600-99448200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr10:99444800-99447400	Active TSS	Aorta	Aorta
7	chr10:99444800-99448400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr10:99445000-99447600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr10:99445000-99447600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr10:99445200-99447400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:99445200-99447400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:99445200-99447400	Active TSS	HSMM	muscle
13	chr10:99445400-99447400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:99445400-99447400	Active TSS	Hela-S3	cervix
15	chr10:99445400-99447600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr10:99445600-99447400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:99445600-99447400	Active TSS	Lung	lung
18	chr10:99445600-99447400	Active TSS	Stomach Mucosa	stomach
19	chr10:99445600-99447400	Active TSS	A549	lung
20	chr10:99445600-99447400	Active TSS	NHDF-Ad	bronchial
21	chr10:99445600-99447400	Active TSS	NHEK	skin
22	chr10:99445600-99447600	Active TSS	Ovary	ovary
23	chr10:99445600-99447800	Active TSS	Psoas Muscle	Psoas
24	chr10:99445800-99447400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:99445800-99447400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:99445800-99447400	Active TSS	NHLF	lung
27	chr10:99445800-99447600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr10:99446000-99447400	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr10:99446000-99447400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr10:99446000-99447800	Flanking Active TSS	GM12878-XiMat	blood
31	chr10:99446000-99448000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:99446000-99448000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr10:99446200-99447400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr10:99446200-99447400	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr10:99446200-99447400	Active TSS	Fetal Intestine Small	intestine
36	chr10:99446200-99447400	Active TSS	HMEC	breast
37	chr10:99446200-99447600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr10:99446200-99447600	Active TSS	Fetal Kidney	kidney
39	chr10:99446200-99447800	Active TSS	Fetal Brain Female	brain
40	chr10:99446200-99448000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr10:99446200-99448000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr10:99446400-99447400	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr10:99446400-99447400	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr10:99446400-99447400	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr10:99446400-99447400	Active TSS	Muscle Satellite Cultured Cells	--
46	chr10:99446400-99447400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:99446400-99447400	Active TSS	Brain Anterior Caudate	brain
48	chr10:99446400-99447400	Active TSS	Brain Germinal Matrix	brain
49	chr10:99446400-99447400	Active TSS	Brain Substantia Nigra	brain
50	chr10:99446400-99447400	Active TSS	Colon Smooth Muscle	Colon

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