Variant report

Variant	rs74149108
Chromosome Location	chr10:94451154-94451155
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	GTF2F1	chr10:94451108-94451291	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr10:94449260-94452278	HL-60	blood:	n/a	n/a
3	POLR2A	chr10:94449619-94458127	K562	blood:	n/a	n/a
4	MAX	chr10:94448657-94452062	NB4	blood:	n/a	chr10:94451525-94451534 chr10:94448823-94448830 chr10:94451440-94451449 chr10:94450120-94450130
5	E2F6	chr10:94450996-94452509	H1-hESC	embryonic stem cell:	n/a	chr10:94451556-94451566 chr10:94451657-94451668
6	RCOR1	chr10:94448029-94451319	IMR90	lung:	n/a	n/a
7	POLR2A	chr10:94450407-94452063	HUVEC	blood vessel:	n/a	n/a
8	GATA2	chr10:94450060-94451722	HUVEC	blood vessel:	n/a	chr10:94450729-94450739
9	HEY1	chr10:94449182-94452787	HepG2	liver:	n/a	chr10:94449456-94449471 chr10:94449722-94449737 chr10:94449663-94449678
10	POLR2A	chr10:94449531-94451280	K562	blood:	n/a	n/a
11	POLR2A	chr10:94449569-94451197	K562	blood:	n/a	n/a
12	TCF12	chr10:94449566-94451184	A549	lung:	n/a	chr10:94450955-94450965
13	POLR2A	chr10:94449284-94451166	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr10:94449238-94452174	NB4	blood:	n/a	n/a
15	MAX	chr10:94448414-94451178	A549	lung:	n/a	chr10:94448823-94448830 chr10:94450120-94450130
16	POLR2A	chr10:94451140-94451159	HepG2	liver:	n/a	n/a
17	SPI1	chr10:94450402-94451808	HL-60	blood:	n/a	chr10:94451276-94451289
18	POLR2A	chr10:94450331-94452890	HepG2	liver:	n/a	n/a
19	POLR2A	chr10:94448620-94452554	K562	blood:	n/a	n/a
20	POLR2A	chr10:94449235-94452565	K562	blood:	n/a	n/a
21	E2F6	chr10:94448479-94451187	K562	blood:	n/a	chr10:94449521-94449530 chr10:94449521-94449533 chr10:94449605-94449615
22	SUZ12	chr10:94448442-94452777	NT2-D1	testis:	n/a	n/a
23	UBTF	chr10:94448546-94452829	K562	blood:	n/a	n/a
24	REST	chr10:94449493-94451804	HL-60	blood:	n/a	chr10:94449713-94449726 chr10:94450343-94450356 chr10:94450156-94450166 chr10:94449688-94449708 chr10:94449710-94449723
25	MAX	chr10:94451058-94452345	H1-hESC	embryonic stem cell:	n/a	chr10:94451525-94451534 chr10:94451440-94451449
26	POLR2A	chr10:94449326-94452612	HUVEC	blood vessel:	n/a	n/a
27	CCNT2	chr10:94448631-94451909	K562	blood:	n/a	chr10:94449521-94449530 chr10:94451255-94451264
28	FOXA2	chr10:94450914-94451228	HepG2	liver:	n/a	n/a
29	POLR2A	chr10:94449198-94452664	HUVEC	blood vessel:	n/a	n/a
30	FOXA1	chr10:94450846-94451177	HepG2	liver:	n/a	n/a
31	CTBP2	chr10:94449746-94452477	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr10:94448722-94452486	HL-60	blood:	n/a	n/a
33	TBL1XR1	chr10:94450424-94451245	K562	blood:	n/a	n/a
34	IRF1	chr10:94450527-94451198	K562	blood:	n/a	n/a
35	UBTF	chr10:94448551-94452652	K562	blood:	n/a	n/a
36	POLR2A	chr10:94451150-94452185	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr10:94449292-94452985	K562	blood:	n/a	n/a
38	POLR2A	chr10:94448505-94452562	K562	blood:	n/a	n/a
39	MAX	chr10:94450977-94451165	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:94349533..94356622-chr10:94447410..94453498,11	K562	blood:
2	chr10:94349533..94354628-chr10:94448059..94453493,12	K562	blood:
3	chr10:94449603..94452740-chr10:94589464..94592452,3	K562	blood:
4	chr10:94448193..94452899-chr10:94604769..94609293,6	K562	blood:

Variant related genes	Relation type
HHEX	TF binding region
ENSG00000138160	Chromatin interaction
ENSG00000138190	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55770900	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56057066	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58619531	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59489651	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61274524	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61451715	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7100035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7100357	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers 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	40 gene(s)	inside rSNPs	diseases
3	esv3446249	chr10:94374508-94549394	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1837497	chr10:94392728-94452430	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv1794949	chr10:94392728-94465559	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers 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
6	nsv825517	chr10:94397149-94472509	Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv825518	chr10:94403446-94467700	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv1802456	chr10:94404824-94452430	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv895896	chr10:94429526-94460650	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv895897	chr10:94430068-94460650	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	esv1816823	chr10:94446041-94452430	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
12	esv3315862	chr10:94448397-94451545	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
13	esv3315974	chr10:94448397-94451545	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
14	esv1809105	chr10:94449235-94452430	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
15	esv1814996	chr10:94449235-94452430	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
16	esv1820053	chr10:94449235-94452430	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
17	esv1829131	chr10:94449235-94452430	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
18	esv1833890	chr10:94449235-94452430	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
19	esv1837511	chr10:94449235-94452430	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
20	esv1839370	chr10:94449235-94452430	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94448400-94451600	Active TSS	NHLF	lung
2	chr10:94448400-94451800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr10:94448400-94452600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr10:94448400-94452600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
5	chr10:94448400-94452800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:94448600-94451800	Active TSS	K562	blood
7	chr10:94448600-94451800	Active TSS	Monocytes-CD14+_RO01746	blood
8	chr10:94448600-94452400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:94448600-94452400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
10	chr10:94448600-94452400	Active TSS	Colon Smooth Muscle	Colon
11	chr10:94448600-94452400	Bivalent/Poised TSS	Psoas Muscle	Psoas
12	chr10:94448800-94451600	Active TSS	A549	lung
13	chr10:94448800-94451800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr10:94448800-94451800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr10:94448800-94451800	Active TSS	Primary monocytes fromperipheralblood	blood
16	chr10:94448800-94452400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr10:94448800-94452600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:94449000-94451800	Active TSS	Liver	Liver
19	chr10:94449000-94451800	Bivalent/Poised TSS	Left Ventricle	heart
20	chr10:94449000-94452600	Active TSS	Lung	lung
21	chr10:94449000-94452600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
22	chr10:94449200-94451600	Active TSS	Primary B cells from peripheral blood	blood
23	chr10:94449200-94451800	Active TSS	Spleen	Spleen
24	chr10:94449200-94452200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
25	chr10:94449200-94452400	Bivalent/Poised TSS	Fetal Stomach	stomach
26	chr10:94449200-94452600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
27	chr10:94449400-94451400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
28	chr10:94449400-94451800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
29	chr10:94449600-94451800	Bivalent Enhancer	Fetal Brain Male	brain
30	chr10:94449600-94452200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:94450000-94451400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
32	chr10:94450000-94451600	Bivalent/Poised TSS	HepG2	liver
33	chr10:94450200-94451600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
34	chr10:94450200-94452000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
35	chr10:94450400-94451200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr10:94450400-94451200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
37	chr10:94450400-94451400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
38	chr10:94450400-94451600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr10:94450400-94451800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr10:94450400-94451800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr10:94450400-94451800	Active TSS	Right Atrium	heart
42	chr10:94450400-94452000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
43	chr10:94450400-94452000	Bivalent/Poised TSS	Thymus	Thymus
44	chr10:94450400-94452200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:94450400-94452200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr10:94450400-94452400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
47	chr10:94450400-94452600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr10:94450400-94452600	Active TSS	Right Ventricle	heart
49	chr10:94450600-94451200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
50	chr10:94450600-94451400	Active TSS	Colonic Mucosa	Colon

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