Variant report

Variant	rs8177627
Chromosome Location	chr10:6019719-6019720
allele	A/C
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	TCF7L2	chr10:6019477-6019947	Hela-S3	cervix:	n/a	n/a
2	MTA3	chr10:6019450-6020382	GM12878	blood:	n/a	n/a
3	FOSL1	chr10:6019437-6019804	K562	blood:	n/a	chr10:6019542-6019551 chr10:6019623-6019634 chr10:6019620-6019631 chr10:6019620-6019632 chr10:6019621-6019631 chr10:6019622-6019630
4	POLR2A	chr10:6018915-6019933	Gliobla	brain:	n/a	n/a
5	YY1	chr10:6019659-6020206	HepG2	liver:	n/a	chr10:6020190-6020199 chr10:6020067-6020081 chr10:6019661-6019675
6	POLR2A	chr10:6018655-6020098	HCT-116	colon:	n/a	n/a
7	CBX3	chr10:6019409-6019929	K562	blood:	n/a	n/a
8	EP300	chr10:6019480-6020112	K562	blood:	n/a	chr10:6019660-6019669 chr10:6019659-6019675 chr10:6020065-6020081
9	CTCF	chr10:6019699-6020356	A549	lung:	n/a	chr10:6020076-6020084 chr10:6020070-6020086 chr10:6020071-6020084 chr10:6020064-6020085
10	EBF1	chr10:6019417-6020168	GM12878	blood:	n/a	n/a
11	IRF1	chr10:6017875-6020558	K562	blood:	n/a	chr10:6019562-6019573 chr10:6018202-6018213 chr10:6019563-6019576 chr10:6019564-6019578 chr10:6019558-6019575 chr10:6018198-6018212 chr10:6019563-6019576 chr10:6019560-6019574 chr10:6019562-6019582 chr10:6018201-6018215 chr10:6018199-6018213 chr10:6018200-6018213 chr10:6018200-6018213 chr10:6018055-6018065 chr10:6019563-6019574 chr10:6019552-6019569 chr10:6019561-6019575 chr10:6019563-6019575 chr10:6018200-6018213 chr10:6018055-6018069 chr10:6019563-6019575 chr10:6018201-6018215 chr10:6019556-6019576 chr10:6019557-6019570 chr10:6019563-6019577 chr10:6018200-6018214 chr10:6019554-6019571 chr10:6019557-6019571 chr10:6019558-6019579 chr10:6018201-6018214
12	CHD2	chr10:6019615-6019982	K562	blood:	n/a	n/a
13	POLR2A	chr10:6018586-6020078	GM12878	blood:	n/a	n/a
14	HCFC1	chr10:6019343-6020424	Hela-S3	cervix:	n/a	n/a
15	E2F4	chr10:6018957-6020221	K562	blood:	n/a	chr10:6020064-6020074 chr10:6020020-6020029 chr10:6019539-6019549 chr10:6019657-6019666 chr10:6019203-6019213
16	MAZ	chr10:6017912-6020277	GM12878	blood:	n/a	chr10:6018960-6018967 chr10:6019504-6019514 chr10:6020067-6020077 chr10:6018249-6018259
17	POLR2A	chr10:6017946-6020199	GM12892	blood:	n/a	n/a
18	MAX	chr10:6018661-6020280	A549	lung:	n/a	chr10:6018960-6018967 chr10:6019504-6019514 chr10:6020067-6020077
19	POLR2A	chr10:6018918-6020171	HUVEC	blood vessel:	n/a	n/a
20	MAZ	chr10:6017867-6020332	K562	blood:	n/a	chr10:6018960-6018967 chr10:6019504-6019514 chr10:6020067-6020077 chr10:6018249-6018259
21	FOSL1	chr10:6019391-6020131	HCT-116	colon:	n/a	chr10:6019542-6019551 chr10:6019623-6019634 chr10:6019620-6019631 chr10:6019620-6019632 chr10:6019621-6019631 chr10:6019622-6019630
22	POLR2A	chr10:6018544-6020083	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr10:6017899-6020220	GM19099	blood:	n/a	n/a
24	E2F6	chr10:6018525-6020213	H1-hESC	embryonic stem cell:	n/a	chr10:6020064-6020074 chr10:6020020-6020029 chr10:6019539-6019549 chr10:6019657-6019666 chr10:6019203-6019213
25	POLR2A	chr10:6019523-6020026	GM12891	blood:	n/a	n/a
26	ZC3H11A	chr10:6019690-6019903	K562	blood:	n/a	n/a
27	ZNF263	chr10:6018424-6020399	HEK293-T-REx	kidney:	n/a	chr10:6018872-6018881 chr10:6018592-6018601
28	MXI1	chr10:6019461-6019949	K562	blood:	n/a	n/a
29	MAZ	chr10:6017702-6020330	IMR90	lung:	n/a	chr10:6018960-6018967 chr10:6019504-6019514 chr10:6020067-6020077 chr10:6018249-6018259
30	BHLHE40	chr10:6018800-6020072	K562	blood:	n/a	chr10:6019144-6019160 chr10:6019658-6019674
31	HEY1	chr10:6019307-6020079	K562	blood:	n/a	chr10:6020053-6020068 chr10:6020048-6020063
32	POLR2A	chr10:6018523-6020105	K562	blood:	n/a	n/a
33	UBTF	chr10:6017910-6020402	K562	blood:	n/a	n/a
34	POLR2A	chr10:6018710-6020141	NB4	blood:	n/a	n/a
35	GTF2F1	chr10:6019573-6019951	K562	blood:	n/a	n/a
36	PAX5	chr10:6018904-6020210	GM12892	blood:	n/a	chr10:6019333-6019351
37	TAF1	chr10:6019474-6019757	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr10:6019322-6020058	K562	blood:	n/a	n/a
39	POLR2A	chr10:6019361-6020044	GM12878	blood:	n/a	n/a
40	E2F6	chr10:6018659-6020120	K562	blood:	n/a	chr10:6020064-6020074 chr10:6020020-6020029 chr10:6019539-6019549 chr10:6019657-6019666 chr10:6019203-6019213
41	RCOR1	chr10:6018419-6020407	IMR90	lung:	n/a	n/a
42	RELA	chr10:6018967-6020339	GM12891	blood:	n/a	n/a
43	YY1	chr10:6019278-6020215	GM12878	blood:	n/a	chr10:6020190-6020199 chr10:6020067-6020081 chr10:6019661-6019675 chr10:6019658-6019669
44	EGR1	chr10:6018787-6020228	HCT-116	colon:	n/a	chr10:6019262-6019275 chr10:6019263-6019272 chr10:6020064-6020077 chr10:6019261-6019276 chr10:6019263-6019273 chr10:6020182-6020195 chr10:6020061-6020075 chr10:6019262-6019275 chr10:6020182-6020195 chr10:6020068-6020078 chr10:6019263-6019273 chr10:6020181-6020196 chr10:6019262-6019275 chr10:6019257-6019279 chr10:6019263-6019274 chr10:6019261-6019275 chr10:6020015-6020028
45	STAT5A	chr10:6019340-6019854	GM12878	blood:	n/a	chr10:6019563-6019574
46	POLR2A	chr10:6018690-6019988	K562	blood:	n/a	n/a
47	TCF12	chr10:6019572-6020050	A549	lung:	n/a	chr10:6019917-6019927
48	MAX	chr10:6019402-6020218	H1-hESC	embryonic stem cell:	n/a	chr10:6019504-6019514 chr10:6020067-6020077
49	TBL1XR1	chr10:6019395-6019893	K562	blood:	n/a	n/a
50	POLR2A	chr10:6017805-6020178	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:6018551..6021640-chr10:6130714..6134315,5	MCF-7	breast:
2	chr10:5931810..5933817-chr10:6018457..6020176,2	MCF-7	breast:
3	chr10:5853517..5856397-chr10:6017987..6020051,2	MCF-7	breast:
4	chr10:6018064..6021783-chr10:6129304..6132316,4	K562	blood:
5	chr10:5987354..5989797-chr10:6018047..6020538,2	MCF-7	breast:
6	chr10:6003571..6011080-chr10:6014794..6021269,11	K562	blood:
7	chr10:6019647..6020148-chr10:6130484..6131213,2	MCF-7	breast:
8	chr10:6018064..6019912-chr10:6129955..6132156,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO18-2	chr10:6019377-6021681	NONHSAT011200

Variant related genes	Relation type
IL15RA	TF binding region
ENSG00000134453	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000134470	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000232807	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs7086498	1.00[AMR][1000 genomes]
rs8177610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv1041261	chr10:5962635-6052196	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1050983	chr10:5963921-6052196	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv894810	chr10:6015595-6023466	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv894811	chr10:6016399-6022562	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv894812	chr10:6016892-6022562	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv549908	chr10:6018225-6021547	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv549909	chr10:6018248-6020101	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr10:6017600-6020800	Active TSS	Colonic Mucosa	Colon
2	chr10:6017800-6020200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr10:6017800-6020400	Active TSS	Brain Anterior Caudate	brain
4	chr10:6017800-6020400	Active TSS	NHDF-Ad	bronchial
5	chr10:6017800-6020800	Active TSS	Lung	lung
6	chr10:6017800-6020800	Active TSS	Rectal Smooth Muscle	rectum
7	chr10:6017800-6021000	Active TSS	Right Atrium	heart
8	chr10:6018000-6020200	Active TSS	Primary monocytes fromperipheralblood	blood
9	chr10:6018000-6020200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr10:6018000-6020200	Active TSS	Stomach Mucosa	stomach
11	chr10:6018000-6020200	Active TSS	Osteobl	bone
12	chr10:6018000-6020400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:6018000-6020400	Active TSS	Brain Cingulate Gyrus	brain
14	chr10:6018000-6020400	Active TSS	Brain Hippocampus Middle	brain
15	chr10:6018000-6020400	Active TSS	Small Intestine	intestine
16	chr10:6018000-6020400	Active TSS	GM12878-XiMat	blood
17	chr10:6018000-6020600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr10:6018000-6020600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:6018000-6020800	Active TSS	Colon Smooth Muscle	Colon
20	chr10:6018200-6020000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:6018200-6020200	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr10:6018200-6020200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr10:6018200-6020200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr10:6018200-6020200	Active TSS	Muscle Satellite Cultured Cells	--
25	chr10:6018200-6020200	Active TSS	Fetal Intestine Small	intestine
26	chr10:6018200-6020200	Active TSS	Gastric	stomach
27	chr10:6018200-6020400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr10:6018200-6020400	Active TSS	Ovary	ovary
29	chr10:6018200-6020400	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr10:6018200-6020600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr10:6018200-6020600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr10:6018200-6020600	Active TSS	K562	blood
33	chr10:6018200-6020800	Active TSS	Esophagus	oesophagus
34	chr10:6018200-6020800	Active TSS	Left Ventricle	heart
35	chr10:6018200-6020800	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr10:6018200-6021000	Active TSS	Psoas Muscle	Psoas
37	chr10:6018200-6021000	Active TSS	Right Ventricle	heart
38	chr10:6018400-6019800	Active TSS	Stomach Smooth Muscle	stomach
39	chr10:6018400-6020200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr10:6018400-6020200	Active TSS	Fetal Lung	lung
41	chr10:6018400-6020200	Active TSS	Pancreas	Pancrea
42	chr10:6018400-6020200	Bivalent/Poised TSS	HepG2	liver
43	chr10:6018400-6020200	Active TSS	HMEC	breast
44	chr10:6018400-6020200	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr10:6018400-6020400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr10:6018400-6020400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr10:6018400-6020400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:6018400-6020400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr10:6018400-6020400	Active TSS	Brain Substantia Nigra	brain
50	chr10:6018400-6020400	Active TSS	Duodenum Mucosa	Duodenum

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