Variant report

Variant	rs34437892
Chromosome Location	chr7:100166424-100166425
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	POLR2A	chr7:100164566-100167757	K562	blood:	n/a	n/a
2	BCL3	chr7:100166137-100166698	A549	lung:	n/a	chr7:100166367-100166376
3	NFATC1	chr7:100165598-100166851	GM12878	blood:	n/a	n/a
4	SP1	chr7:100165222-100166494	HepG2	liver:	n/a	chr7:100165941-100165953 chr7:100166110-100166119 chr7:100166109-100166121 chr7:100166110-100166119 chr7:100166127-100166136 chr7:100165971-100165980 chr7:100165942-100165951 chr7:100165942-100165952 chr7:100166126-100166135 chr7:100166109-100166121 chr7:100166125-100166137 chr7:100166110-100166120 chr7:100165941-100165953 chr7:100165976-100165983 chr7:100165938-100165952 chr7:100166111-100166120
5	POLR2A	chr7:100163833-100176987	HepG2	liver:	n/a	n/a
6	NFATC1	chr7:100164689-100168128	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:100164603-100168250	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:100165760-100168202	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr7:100163798-100168114	K562	blood:	n/a	n/a
10	POLR2A	chr7:100165011-100168250	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:100166372-100166500	A549	lung:	n/a	n/a
12	POLR2A	chr7:100166165-100167119	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:100164708-100168144	GM18505	blood:	n/a	n/a
14	BCL3	chr7:100166114-100168265	GM12878	blood:	n/a	chr7:100167721-100167734 chr7:100166126-100166135 chr7:100166367-100166376
15	EP300	chr7:100165767-100166530	HepG2	liver:	n/a	chr7:100166366-100166375
16	JUND	chr7:100165761-100166710	HepG2	liver:	n/a	chr7:100166124-100166133
17	TEAD4	chr7:100165254-100168250	HepG2	liver:	n/a	n/a
18	POLR2A	chr7:100166175-100166460	MCF-7	breast:	n/a	n/a
19	POLR2A	chr7:100165866-100166426	A549	lung:	n/a	n/a
20	POLR2A	chr7:100166067-100168092	HUVEC	blood vessel:	n/a	n/a
21	STAT5A	chr7:100164915-100168333	GM12878	blood:	n/a	chr7:100165938-100165950 chr7:100165943-100165955 chr7:100167613-100167625 chr7:100166761-100166768
22	YY1	chr7:100165685-100166696	HepG2	liver:	n/a	chr7:100166124-100166133 chr7:100166124-100166135 chr7:100166506-100166514 chr7:100165942-100165953
23	ELF1	chr7:100165832-100166593	HepG2	liver:	n/a	chr7:100165873-100165885
24	MBD4	chr7:100164576-100169895	HepG2	liver:	n/a	n/a
25	CHD2	chr7:100165613-100166429	HepG2	liver:	n/a	n/a
26	MAX	chr7:100164909-100168280	HepG2	liver:	n/a	chr7:100166012-100166021 chr7:100166012-100166021 chr7:100166011-100166021 chr7:100166012-100166021 chr7:100166014-100166023 chr7:100165952-100165962 chr7:100166343-100166352 chr7:100165981-100165991
27	POLR2A	chr7:100165634-100166454	HepG2	liver:	n/a	n/a
28	POLR2A	chr7:100164983-100168251	GM12878	blood:	n/a	n/a
29	USF1	chr7:100165821-100166501	HepG2	liver:	n/a	chr7:100166196-100166207
30	MAX	chr7:100165578-100166444	K562	blood:	n/a	chr7:100166012-100166021 chr7:100166012-100166021 chr7:100166011-100166021 chr7:100166012-100166021 chr7:100166014-100166023 chr7:100165952-100165962 chr7:100166343-100166352 chr7:100165981-100165991
31	POLR2A	chr7:100166104-100166495	GM12891	blood:	n/a	n/a
32	PML	chr7:100164911-100168292	GM12878	blood:	n/a	n/a
33	MTA3	chr7:100164761-100168316	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:100165619-100166465	GM12892	blood:	n/a	n/a
35	POLR2A	chr7:100162271-100168311	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:100166300-100168212	PANC-1	pancreas:	n/a	n/a
37	MAZ	chr7:100165357-100166507	HepG2	liver:	n/a	chr7:100166012-100166021 chr7:100166012-100166021 chr7:100166011-100166021 chr7:100166012-100166021 chr7:100166014-100166023 chr7:100166343-100166352
38	NFIC	chr7:100165119-100169648	HepG2	liver:	n/a	n/a
39	POLR2A	chr7:100165440-100166777	A549	lung:	n/a	n/a
40	BHLHE40	chr7:100165431-100166528	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:100165042-100168125	GM12891	blood:	n/a	n/a
42	HEY1	chr7:100164696-100168388	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:100163500-100170891	HepG2	liver:	n/a	n/a
44	JUND	chr7:100165626-100168234	HepG2	liver:	n/a	chr7:100166124-100166133
45	POLR2A	chr7:100164662-100168071	GM12878	blood:	n/a	n/a
46	RCOR1	chr7:100165026-100166524	HepG2	liver:	n/a	n/a
47	POLR2A	chr7:100166136-100166591	GM12891	blood:	n/a	n/a
48	POLR2A	chr7:100165354-100168137	HepG2	liver:	n/a	n/a
49	ZBTB7A	chr7:100166060-100166505	HepG2	liver:	n/a	n/a
50	POLR2A	chr7:100166285-100166587	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100164645..100167168-chr7:100274291..100277029,2	MCF-7	breast:
2	chr7:100135274..100138223-chr7:100165794..100167927,2	MCF-7	breast:
3	chr7:100164565..100167457-chr7:100344225..100346169,2	K562	blood:
4	chr7:100023646..100028399-chr7:100166149..100169452,5	K562	blood:
5	chr7:100136389..100138231-chr7:100164373..100167646,4	MCF-7	breast:
6	chr7:100072828..100074767-chr7:100164156..100166742,3	K562	blood:
7	chr7:100135710..100139332-chr7:100164432..100167649,4	K562	blood:
8	chr7:100025402..100027962-chr7:100165683..100167743,2	MCF-7	breast:
9	chr7:100164021..100167262-chr7:100491733..100494346,3	K562	blood:
10	chr7:100088603..100090189-chr7:100164036..100166443,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184414	TF binding region
ENSG00000106351	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000087085	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000166924	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10251602	1.00[LWK][hapmap]
rs12673102	1.00[LWK][hapmap]
rs13237608	1.00[LWK][hapmap]
rs221775	1.00[LWK][hapmap]
rs4352765	1.00[LWK][hapmap]
rs4999572	1.00[LWK][hapmap]
rs7801492	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
3	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
4	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
5	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
6	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
9	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv888787	chr7:100161557-100179857	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
11	nsv888788	chr7:100161557-100186066	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	52 gene(s)	inside rSNPs	diseases
12	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100144200-100167000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:100145200-100167400	Weak transcription	HSMM	muscle
3	chr7:100146600-100167200	Weak transcription	Fetal Heart	heart
4	chr7:100151400-100167400	Weak transcription	Psoas Muscle	Psoas
5	chr7:100154000-100166800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:100154400-100166600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:100154400-100167400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:100154400-100167400	Weak transcription	HMEC	breast
9	chr7:100154600-100173600	Weak transcription	HSMMtube	muscle
10	chr7:100155000-100167000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:100155000-100167200	Weak transcription	Osteobl	bone
12	chr7:100155800-100166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:100157000-100166800	Weak transcription	HUVEC	blood vessel
14	chr7:100157800-100166600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:100157800-100169600	Weak transcription	Hela-S3	cervix
16	chr7:100158200-100167200	Weak transcription	Right Atrium	heart
17	chr7:100158800-100167600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:100159800-100167400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:100160800-100172800	Weak transcription	Aorta	Aorta
20	chr7:100161000-100166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:100161000-100166600	Weak transcription	Fetal Lung	lung
22	chr7:100161000-100167200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:100161200-100166600	Weak transcription	Brain Angular Gyrus	brain
24	chr7:100161200-100167000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:100161400-100166800	Weak transcription	Brain Anterior Caudate	brain
26	chr7:100161400-100167800	Weak transcription	NHLF	lung
27	chr7:100162000-100166600	Weak transcription	Dnd41	blood
28	chr7:100164000-100167600	Enhancers	Pancreas	Pancrea
29	chr7:100164200-100167200	Weak transcription	Thymus	Thymus
30	chr7:100164400-100167000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:100164400-100167400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:100164600-100166600	Enhancers	Ovary	ovary
33	chr7:100164600-100167200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:100164600-100169000	Enhancers	Placenta	Placenta
35	chr7:100164800-100166800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:100164800-100167200	Enhancers	Primary B cells from peripheral blood	blood
37	chr7:100164800-100167200	Flanking Active TSS	HepG2	liver
38	chr7:100164800-100168000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:100165000-100166800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr7:100165000-100167000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:100165000-100167200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr7:100165000-100167200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:100165000-100167200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr7:100165000-100167200	Enhancers	Duodenum Mucosa	Duodenum
45	chr7:100165000-100167200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr7:100165000-100167400	Enhancers	Primary B cells from cord blood	blood
47	chr7:100165000-100167400	Enhancers	GM12878-XiMat	blood
48	chr7:100165000-100167600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:100165200-100166600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:100165200-100167000	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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