Variant report

Variant	rs376244494
Chromosome Location	chr10:43698635-43698636
allele	-/ACC
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	chr10:43698109-43699491	K562	blood:	n/a	n/a
2	CREB1	chr10:43697645-43698721	K562	blood:	n/a	n/a
3	MAX	chr10:43697592-43699700	K562	blood:	n/a	chr10:43699657-43699666 chr10:43698135-43698144 chr10:43699657-43699666 chr10:43699500-43699507 chr10:43699657-43699666 chr10:43699274-43699284 chr10:43699657-43699667 chr10:43699655-43699664
4	RCOR1	chr10:43697650-43699564	K562	blood:	n/a	n/a
5	MAX	chr10:43698561-43699339	K562	blood:	n/a	chr10:43699274-43699284
6	NR2F2	chr10:43698328-43698880	K562	blood:	n/a	n/a
7	EGR1	chr10:43698553-43698860	K562	blood:	n/a	n/a
8	IRF1	chr10:43697593-43699654	K562	blood:	n/a	chr10:43698081-43698095
9	POLR2A	chr10:43698614-43698956	K562	blood:	n/a	n/a
10	MAX	chr10:43697624-43700114	K562	blood:	n/a	chr10:43699657-43699666 chr10:43698135-43698144 chr10:43699657-43699666 chr10:43699500-43699507 chr10:43699657-43699666 chr10:43699274-43699284 chr10:43699657-43699667 chr10:43699655-43699664
11	MAX	chr10:43697631-43698882	H1-hESC	embryonic stem cell:	n/a	chr10:43698135-43698144
12	MYC	chr10:43697676-43699784	K562	blood:	n/a	chr10:43699657-43699666 chr10:43698135-43698144 chr10:43699657-43699666 chr10:43699500-43699507 chr10:43699657-43699666 chr10:43699274-43699284 chr10:43699657-43699667 chr10:43699655-43699664
13	CHD2	chr10:43698462-43699300	K562	blood:	n/a	n/a
14	POLR2A	chr10:43698452-43699407	K562	blood:	n/a	n/a
15	ZBTB7A	chr10:43698528-43699062	ECC-1	luminal epithelium:	n/a	n/a
16	ZBTB7A	chr10:43697625-43699717	K562	blood:	n/a	chr10:43699426-43699434 chr10:43697980-43697989
17	SP1	chr10:43698009-43698747	K562	blood:	n/a	chr10:43698085-43698094 chr10:43698084-43698093 chr10:43698084-43698093 chr10:43698084-43698094 chr10:43698083-43698095 chr10:43698734-43698743 chr10:43698083-43698095 chr10:43698084-43698094 chr10:43698337-43698348
18	MAZ	chr10:43697573-43699701	K562	blood:	n/a	chr10:43699657-43699666 chr10:43698135-43698144 chr10:43699657-43699666 chr10:43699500-43699507 chr10:43699657-43699666 chr10:43699274-43699284 chr10:43699657-43699667 chr10:43699655-43699664
19	ZBTB7A	chr10:43697645-43699019	K562	blood:	n/a	chr10:43697980-43697989
20	HDAC2	chr10:43698577-43698887	K562	blood:	n/a	n/a
21	ELF1	chr10:43697976-43698821	K562	blood:	n/a	chr10:43698091-43698103
22	CHD2	chr10:43698496-43698756	H1-hESC	embryonic stem cell:	n/a	n/a
23	HMGN3	chr10:43697654-43699668	K562	blood:	n/a	n/a
24	MYC	chr10:43697598-43699770	K562	blood:	n/a	chr10:43699657-43699666 chr10:43698135-43698144 chr10:43699657-43699666 chr10:43699500-43699507 chr10:43699657-43699666 chr10:43699274-43699284 chr10:43699657-43699667 chr10:43699655-43699664
25	SP1	chr10:43698058-43698671	H1-hESC	embryonic stem cell:	n/a	chr10:43698085-43698094 chr10:43698084-43698093 chr10:43698084-43698093 chr10:43698084-43698094 chr10:43698083-43698095 chr10:43698083-43698095 chr10:43698084-43698094 chr10:43698337-43698348
26	POLR2A	chr10:43698610-43699320	K562	blood:	n/a	n/a
27	NR2F2	chr10:43698341-43699567	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43696369..43700743-chr10:43891529..43894634,3	K562	blood:
2	chr10:43696835..43700131-chr10:43902185..43905182,4	K562	blood:
3	chr10:43696064..43699246-chr10:43901638..43904576,3	K562	blood:
4	chr10:43632409..43636039-chr10:43698014..43700588,4	K562	blood:
5	chr10:43632694..43635237-chr10:43697053..43700182,3	MCF-7	breast:
6	chr10:43632409..43636039-chr10:43698014..43700588,6	K562	blood:
7	chr10:43698632..43700457-chr10:43704012..43705797,2	K562	blood:
8	chr10:43697420..43700683-chr10:43890424..43894292,4	K562	blood:

Variant related genes	Relation type
RASGEF1A	TF binding region
ENSG00000169826	Chromatin interaction
ENSG00000169813	Chromatin interaction
ENSG00000273008	Chromatin interaction
ENSG00000198915	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong 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	17 gene(s)	inside rSNPs	diseases
8	esv1831010	chr10:43674916-43759185	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv895084	chr10:43688505-43765485	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv466881	chr10:43695049-43799588	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv550696	chr10:43695049-43799588	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv895085	chr10:43695049-43804617	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv3402305	chr10:43697246-43699869	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43675600-43700600	Weak transcription	A549	lung
2	chr10:43697200-43699400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr10:43697400-43698800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:43697400-43699400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr10:43697400-43699400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr10:43697400-43699400	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr10:43697600-43698800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:43697600-43699000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr10:43697600-43699000	Active TSS	HUVEC	blood vessel
10	chr10:43697600-43699000	Active TSS	K562	blood
11	chr10:43697600-43699000	Active TSS	NHEK	skin
12	chr10:43697600-43699200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:43697600-43699400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr10:43697600-43699400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr10:43697600-43699400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:43697600-43699400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr10:43697600-43699400	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr10:43697600-43699400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr10:43697600-43699400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:43697600-43699400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:43697800-43699000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr10:43697800-43699200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:43697800-43699200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr10:43697800-43699400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr10:43698000-43698800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr10:43698000-43698800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:43698000-43698800	Active TSS	Primary monocytes fromperipheralblood	blood
28	chr10:43698000-43698800	Active TSS	Adipose Nuclei	Adipose
29	chr10:43698000-43698800	Weak transcription	GM12878-XiMat	blood
30	chr10:43698000-43699000	Active TSS	Fetal Intestine Large	intestine
31	chr10:43698000-43699000	Active TSS	Thymus	Thymus
32	chr10:43698000-43699200	Enhancers	Primary B cells from cord blood	blood
33	chr10:43698000-43699200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:43698000-43699200	Active TSS	Colonic Mucosa	Colon
35	chr10:43698000-43699200	Active TSS	Duodenum Mucosa	Duodenum
36	chr10:43698000-43699200	Active TSS	Fetal Intestine Small	intestine
37	chr10:43698000-43699400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr10:43698000-43699400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:43698000-43699800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:43698000-43700000	Enhancers	Lung	lung
41	chr10:43698000-43700200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr10:43698000-43700400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr10:43698000-43700400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr10:43698000-43700600	Weak transcription	Brain Angular Gyrus	brain
45	chr10:43698000-43722800	Weak transcription	Gastric	stomach
46	chr10:43698200-43698800	Active TSS	Placenta	Placenta
47	chr10:43698200-43699200	Bivalent Enhancer	Fetal Stomach	stomach
48	chr10:43698200-43699200	Enhancers	Fetal Thymus	thymus
49	chr10:43698200-43700200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr10:43698200-43700400	Weak transcription	Brain Anterior Caudate	brain

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