Variant report

Variant	rs7076967
Chromosome Location	chr10:93169202-93169203
allele	G/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	TAF1	chr10:93169064-93170275	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr10:93169147-93170505	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:93169045-93170788	MCF-7	breast:	n/a	n/a
4	KAP1	chr10:93168830-93169893	HEK293	kidney:	n/a	chr10:93169867-93169875
5	MAZ	chr10:93168879-93171144	K562	blood:	n/a	chr10:93169943-93169953
6	MAFK	chr10:93168433-93169959	Hela-S3	cervix:	n/a	chr10:93168524-93168540 chr10:93168524-93168535 chr10:93168525-93168536 chr10:93168524-93168535 chr10:93168524-93168539
7	POLR2A	chr10:93169042-93170019	HepG2	liver:	n/a	n/a
8	JUND	chr10:93169111-93170583	A549	lung:	n/a	chr10:93169942-93169951 chr10:93169403-93169417
9	CREB1	chr10:93169109-93170220	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr10:93169099-93170025	GM12878	blood:	n/a	n/a
11	EP300	chr10:93169070-93169476	K562	blood:	n/a	n/a
12	POLR2A	chr10:93169125-93170122	GM12878	blood:	n/a	n/a
13	GATA3	chr10:93169083-93169587	T-47D	breast:	n/a	n/a
14	ZNF143	chr10:93169046-93170563	Hela-S3	cervix:	n/a	chr10:93169943-93169953
15	SP1	chr10:93168942-93169927	A549	lung:	n/a	chr10:93169400-93169414 chr10:93169357-93169371 chr10:93169067-93169081
16	POLR2A	chr10:93169103-93170108	GM12891	blood:	n/a	n/a
17	POLR2A	chr10:93169114-93170927	Hela-S3	cervix:	n/a	n/a
18	EP300	chr10:93169199-93169587	T-47D	breast:	n/a	n/a
19	POLR2A	chr10:93169176-93170520	A549	lung:	n/a	n/a
20	TBP	chr10:93168758-93169908	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr10:93168899-93170925	K562	blood:	n/a	n/a
22	PML	chr10:93169087-93170144	GM12878	blood:	n/a	chr10:93169867-93169875
23	CREB1	chr10:93169118-93170615	HepG2	liver:	n/a	n/a
24	CREB1	chr10:93169184-93170516	A549	lung:	n/a	n/a
25	POLR2A	chr10:93169121-93170312	HUVEC	blood vessel:	n/a	n/a
26	FOXA1	chr10:93169043-93169594	T-47D	breast:	n/a	n/a
27	POLR2A	chr10:93168772-93170999	Hela-S3	cervix:	n/a	n/a
28	RAD21	chr10:93168835-93169608	SK-N-SH_RA	brain:	n/a	n/a
29	TAF1	chr10:93169172-93169618	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr10:93169016-93170954	Hela-S3	cervix:	n/a	n/a
31	RAD21	chr10:93169167-93169549	SK-N-SH_RA	brain:	n/a	n/a
32	POLR2A	chr10:93169129-93170447	GM18951	blood:	n/a	n/a
33	POLR2A	chr10:93168991-93170291	K562	blood:	n/a	n/a
34	MYBL2	chr10:93169136-93169852	HepG2	liver:	n/a	n/a
35	POLR2A	chr10:93169073-93170556	K562	blood:	n/a	n/a
36	YY1	chr10:93169159-93170642	A549	lung:	n/a	chr10:93169949-93169960 chr10:93170345-93170359 chr10:93169943-93169957 chr10:93170358-93170372 chr10:93169839-93169849 chr10:93169837-93169849
37	BCLAF1	chr10:93169172-93170136	GM12878	blood:	n/a	chr10:93169792-93169805
38	POLR2A	chr10:93169004-93170029	HepG2	liver:	n/a	n/a
39	MAZ	chr10:93168889-93170849	Hela-S3	cervix:	n/a	chr10:93169943-93169953
40	HEY1	chr10:93169085-93170244	K562	blood:	n/a	chr10:93169989-93170004
41	POLR2A	chr10:93168929-93170672	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr10:93169100-93170577	A549	lung:	n/a	n/a
43	POLR2A	chr10:93168841-93170641	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF1	chr10:93169123-93169427	K562	blood:	n/a	n/a
45	TAF1	chr10:93169169-93170001	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr10:93169142-93169978	GM12892	blood:	n/a	n/a
47	POLR2A	chr10:93168769-93171125	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr10:93169172-93170225	GM10847	blood:	n/a	n/a
49	POLR2A	chr10:93168962-93170730	GM12878	blood:	n/a	n/a
50	POLR2A	chr10:93169083-93170353	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:93159316..93160833-chr10:93167746..93169415,2	MCF-7	breast:
2	chr10:93168951..93169596-chr5:125930397..125930920,2	Hela-S3	cervix:
3	chr10:93168063..93170852-chr10:93390602..93395151,5	MCF-7	breast:
4	chr10:93168988..93169938-chr3:88199134..88199655,2	Hela-S3	cervix:
5	chr10:93168131..93170607-chr10:93391298..93393665,3	MCF-7	breast:
6	chr10:93168731..93169253-chr20:62670096..62670977,2	Hela-S3	cervix:
7	chr10:93168860..93169608-chr13:28033243..28034233,2	MCF-7	breast:
8	chr10:93168802..93169644-chr11:84197576..84198076,2	Hela-S3	cervix:
9	chr10:93169042..93169793-chr20:42839010..42839640,2	Hela-S3	cervix:
10	chr10:93168839..93171584-chr10:93557037..93559095,2	K562	blood:

Variant related genes	Relation type
HECTD2	TF binding region
ENSG00000119938	Chromatin interaction
ENSG00000107854	Chromatin interaction
ENSG00000223891	Chromatin interaction
ENSG00000228701	Chromatin interaction
ENSG00000179021	Chromatin interaction
ENSG00000132823	Chromatin interaction
ENSG00000164904	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17093783	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17106676	1.00[AFR][1000 genomes]
rs17106721	1.00[AFR][1000 genomes]
rs17106724	1.00[AFR][1000 genomes]
rs7091305	1.00[AFR][1000 genomes]
rs7918822	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs7923473	1.00[AFR][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	nsv1040403	chr10:93165819-93225036	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv3341572	chr10:93168997-93171545	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 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	chr10:93168200-93170600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:93168400-93170800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:93168600-93169400	Flanking Active TSS	Dnd41	blood
4	chr10:93168600-93169400	Active TSS	HMEC	breast
5	chr10:93168600-93170400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr10:93168600-93170400	Active TSS	Brain Angular Gyrus	brain
7	chr10:93168600-93170400	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr10:93168600-93171000	Active TSS	Colon Smooth Muscle	Colon
9	chr10:93168600-93171000	Active TSS	Fetal Intestine Large	intestine
10	chr10:93168600-93171200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:93168600-93171400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr10:93168600-93171400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:93168600-93171400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:93168600-93171400	Active TSS	A549	lung
15	chr10:93168600-93171600	Active TSS	Fetal Brain Female	brain
16	chr10:93168800-93169400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr10:93168800-93169400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr10:93168800-93169400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr10:93168800-93169400	Flanking Active TSS	HUVEC	blood vessel
20	chr10:93168800-93169400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr10:93168800-93169400	Flanking Active TSS	NHEK	skin
22	chr10:93168800-93169600	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr10:93168800-93169600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr10:93168800-93169600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr10:93168800-93169600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr10:93168800-93169600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:93168800-93170200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:93168800-93170400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr10:93168800-93170400	Active TSS	Primary T cells from cord blood	blood
30	chr10:93168800-93170400	Active TSS	Adipose Nuclei	Adipose
31	chr10:93168800-93170400	Active TSS	Fetal Muscle Trunk	muscle
32	chr10:93168800-93170400	Active TSS	Pancreas	Pancrea
33	chr10:93168800-93170400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr10:93168800-93170400	Active TSS	Thymus	Thymus
35	chr10:93168800-93170400	Active TSS	GM12878-XiMat	blood
36	chr10:93168800-93170600	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr10:93168800-93170600	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr10:93168800-93170600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:93168800-93170600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:93168800-93170600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr10:93168800-93170600	Active TSS	Fetal Muscle Leg	muscle
42	chr10:93168800-93170600	Active TSS	Fetal Thymus	thymus
43	chr10:93168800-93170800	Active TSS	Brain Substantia Nigra	brain
44	chr10:93168800-93170800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr10:93168800-93170800	Active TSS	Fetal Intestine Small	intestine
46	chr10:93168800-93170800	Active TSS	Rectal Smooth Muscle	rectum
47	chr10:93168800-93171000	Active TSS	H9 Cell Line	embryonic stem cell
48	chr10:93168800-93171000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr10:93168800-93171000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr10:93168800-93171000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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