Variant report

Variant	rs538845227
Chromosome Location	chr10:99079407-99079408
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	chr10:99078919-99079452	A549	lung:	n/a	n/a
2	POLR2A	chr10:99078490-99080301	NB4	blood:	n/a	n/a
3	POLR2A	chr10:99078682-99079654	MCF-7	breast:	n/a	n/a
4	MYC	chr10:99078904-99079660	MCF-7	breast:	n/a	n/a
5	CTBP2	chr10:99078664-99079475	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr10:99078444-99079692	K562	blood:	n/a	n/a
7	MAX	chr10:99078490-99079638	K562	blood:	n/a	n/a
8	HEY1	chr10:99078495-99079553	HepG2	liver:	n/a	chr10:99078983-99078992 chr10:99079039-99079054 chr10:99078981-99078990 chr10:99079036-99079051
9	POLR2A	chr10:99078452-99079514	K562	blood:	n/a	n/a
10	POLR2A	chr10:99078728-99079453	GM15510	blood:	n/a	n/a
11	TAF1	chr10:99078883-99079414	Hela-S3	cervix:	n/a	n/a
12	E2F6	chr10:99078480-99079896	K562	blood:	n/a	chr10:99078983-99078992 chr10:99078981-99078990
13	SIN3AK20	chr10:99078385-99080207	PANC-1	pancreas:	n/a	n/a
14	TCF12	chr10:99078394-99079415	ECC-1	luminal epithelium:	n/a	chr10:99078996-99079005
15	MAX	chr10:99078405-99079803	K562	blood:	n/a	n/a
16	ZBTB7A	chr10:99079326-99079665	K562	blood:	n/a	n/a
17	SIN3A	chr10:99078476-99080543	H1-hESC	embryonic stem cell:	n/a	chr10:99079177-99079190 chr10:99079183-99079191
18	REST	chr10:99078179-99080438	H1-neurons	neurons:	n/a	chr10:99079177-99079190
19	MAX	chr10:99078475-99079416	MCF-7	breast:	n/a	n/a
20	YY1	chr10:99078619-99080159	HepG2	liver:	n/a	chr10:99079029-99079043 chr10:99079087-99079098
21	TAF1	chr10:99078743-99080152	HepG2	liver:	n/a	n/a
22	TAF1	chr10:99078451-99079467	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr10:99078448-99079437	Hela-S3	cervix:	n/a	n/a
24	JUN	chr10:99078395-99079485	K562	blood:	n/a	chr10:99078981-99078994 chr10:99078982-99078991
25	POLR2A	chr10:99078480-99079590	K562	blood:	n/a	n/a
26	POLR2A	chr10:99078432-99079943	Hela-S3	cervix:	n/a	n/a
27	UBTF	chr10:99078887-99079609	K562	blood:	n/a	n/a
28	MAX	chr10:99078375-99079416	A549	lung:	n/a	n/a
29	HCFC1	chr10:99078294-99079477	Hela-S3	cervix:	n/a	n/a
30	HEY1	chr10:99079256-99079425	HepG2	liver:	n/a	n/a
31	EP300	chr10:99078829-99079413	T-47D	breast:	n/a	n/a
32	POLR2A	chr10:99078557-99079772	HepG2	liver:	n/a	n/a
33	MAX	chr10:99078432-99081027	HepG2	liver:	n/a	n/a
34	HCFC1	chr10:99078589-99079491	K562	blood:	n/a	n/a
35	POLR2A	chr10:99078892-99079854	A549	lung:	n/a	n/a
36	MYC	chr10:99078454-99080540	NB4	blood:	n/a	n/a
37	SIN3AK20	chr10:99078418-99079438	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr10:99078708-99079783	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr10:99078903-99079431	A549	lung:	n/a	n/a
40	POLR2A	chr10:99078851-99079596	ProgFib	skin:	n/a	n/a
41	POLR2A	chr10:99078909-99079419	HepG2	liver:	n/a	n/a
42	GABPA	chr10:99078577-99079416	MCF-7	breast:	n/a	n/a
43	MAX	chr10:99078327-99079421	ECC-1	luminal epithelium:	n/a	n/a
44	MXI1	chr10:99078497-99080130	HepG2	liver:	n/a	n/a
45	POLR2A	chr10:99078914-99079471	GM12878	blood:	n/a	n/a
46	JUND	chr10:99078378-99080607	SK-N-SH	brain:	n/a	chr10:99078982-99078991
47	HEY1	chr10:99078870-99079510	K562	blood:	n/a	chr10:99078983-99078992 chr10:99079039-99079054 chr10:99078981-99078990 chr10:99079036-99079051
48	POLR2A	chr10:99078693-99079440	HUVEC	blood vessel:	n/a	n/a
49	TAF1	chr10:99078420-99079473	H1-hESC	embryonic stem cell:	n/a	n/a
50	CCNT2	chr10:99078747-99080168	K562	blood:	n/a	chr10:99079089-99079098

No.	Distal block	Cell Line	Cell type
1	chr10:99051058..99054984-chr10:99078319..99082092,7	MCF-7	breast:
2	chr10:99078866..99080436-chr17:56709012..56711151,2	MCF-7	breast:
3	chr10:99052064..99052648-chr10:99078773..99079491,2	NB4	blood:
4	chr10:99050343..99055587-chr10:99077475..99082102,7	MCF-7	breast:
5	chr10:99051582..99055310-chr10:99077169..99083058,6	K562	blood:
6	chr10:99066690..99071389-chr10:99076606..99080814,5	MCF-7	breast:

Variant related genes	Relation type
FRAT1	TF binding region
ENSG00000213390	Chromatin interaction
ENSG00000237169	Chromatin interaction
ENSG00000269891	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1041614	chr10:98928281-99083056	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1045553	chr10:98944397-99122203	Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv540750	chr10:98944397-99122203	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription 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	27 gene(s)	inside rSNPs	diseases
5	nsv831952	chr10:98998344-99145924	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv895914	chr10:99006083-99131676	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv825533	chr10:99070570-99115599	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv3375506	chr10:99078187-99080735	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3345502	chr10:99078562-99080560	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv3358377	chr10:99078587-99081135	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr10:99077600-99079800	Active TSS	Fetal Intestine Large	intestine
2	chr10:99077600-99079800	Active TSS	Hela-S3	cervix
3	chr10:99077600-99080200	Active TSS	Brain Hippocampus Middle	brain
4	chr10:99077800-99080000	Active TSS	Primary T cells from cord blood	blood
5	chr10:99078000-99079600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr10:99078000-99081200	Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr10:99078000-99081400	Active TSS	Monocytes-CD14+_RO01746	blood
8	chr10:99078200-99079600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:99078200-99079600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr10:99078200-99079600	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:99078200-99079600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr10:99078200-99079600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:99078200-99079600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:99078200-99079600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:99078200-99079600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:99078200-99079600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:99078200-99079600	Active TSS	Fetal Brain Female	brain
18	chr10:99078200-99079600	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr10:99078200-99079800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:99078200-99079800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr10:99078200-99079800	Active TSS	Muscle Satellite Cultured Cells	--
22	chr10:99078200-99079800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr10:99078200-99079800	Active TSS	Fetal Intestine Small	intestine
24	chr10:99078200-99079800	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr10:99078200-99080000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:99078200-99080000	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr10:99078200-99080000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr10:99078200-99080000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr10:99078200-99080000	Active TSS	Brain Anterior Caudate	brain
30	chr10:99078200-99080000	Active TSS	Brain Cingulate Gyrus	brain
31	chr10:99078200-99080000	Active TSS	Brain Substantia Nigra	brain
32	chr10:99078200-99080000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr10:99078200-99080200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr10:99078200-99080200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr10:99078200-99080200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr10:99078200-99080200	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr10:99078200-99080200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr10:99078200-99080200	Active TSS	Duodenum Mucosa	Duodenum
39	chr10:99078200-99080200	Active TSS	Fetal Kidney	kidney
40	chr10:99078200-99080200	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr10:99078200-99080200	Active TSS	Thymus	Thymus
42	chr10:99078200-99081000	Active TSS	Psoas Muscle	Psoas
43	chr10:99078200-99081200	Active TSS	Brain Angular Gyrus	brain
44	chr10:99078200-99081200	Active TSS	Colon Smooth Muscle	Colon
45	chr10:99078200-99081200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr10:99078200-99081600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr10:99078200-99081600	Active TSS	Rectal Smooth Muscle	rectum
48	chr10:99078400-99079600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr10:99078400-99079600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr10:99078400-99079600	Active TSS	Fetal Lung	lung

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