Variant report

Variant	rs150087159
Chromosome Location	chr5:77944305-77944306
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	TCF3	chr5:77943700-77944754	GM12878	blood:	n/a	chr5:77944086-77944100 chr5:77944085-77944100 chr5:77943943-77943957
2	POLR2A	chr5:77944226-77944884	U87	brain:	n/a	n/a
3	MAX	chr5:77943155-77944694	H1-hESC	embryonic stem cell:	n/a	chr5:77943471-77943481
4	CTCF	chr5:77944180-77944330	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:77943265-77945243	GM12892	blood:	n/a	n/a
6	POLR2A	chr5:77943215-77945103	GM18951	blood:	n/a	n/a
7	YY1	chr5:77943800-77945090	GM12878	blood:	n/a	chr5:77944900-77944911 chr5:77944242-77944256 chr5:77944902-77944911 chr5:77944896-77944910 chr5:77944184-77944195 chr5:77944066-77944080 chr5:77944241-77944255 chr5:77944902-77944916 chr5:77944289-77944303 chr5:77944279-77944290 chr5:77944262-77944276 chr5:77944211-77944225
8	BCLAF1	chr5:77943183-77944315	GM12878	blood:	n/a	chr5:77944064-77944077 chr5:77943877-77943886 chr5:77944281-77944294 chr5:77944068-77944081 chr5:77944068-77944081
9	POLR2A	chr5:77944221-77944757	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr5:77943790-77945102	GM18526	blood:	n/a	n/a
11	MAX	chr5:77943370-77944702	K562	blood:	n/a	chr5:77943471-77943481
12	MXI1	chr5:77943315-77945019	HepG2	liver:	n/a	chr5:77944256-77944265
13	REST	chr5:77943713-77945271	H1-neurons	neurons:	n/a	chr5:77944130-77944144 chr5:77943918-77943931 chr5:77944134-77944147 chr5:77944032-77944039 chr5:77943915-77943928 chr5:77943875-77943888
14	E2F4	chr5:77944026-77944692	MCF10A-Er-Src	breast:	n/a	chr5:77944163-77944178
15	TAF7	chr5:77943909-77944600	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:77942955-77945176	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr5:77943696-77945207	GM19193	blood:	n/a	n/a
18	POLR2A	chr5:77944241-77944742	A549	lung:	n/a	n/a
19	POLR2A	chr5:77943773-77944735	A549	lung:	n/a	n/a
20	POLR2A	chr5:77944232-77944680	U87	brain:	n/a	n/a
21	MAX	chr5:77943814-77944534	K562	blood:	n/a	n/a
22	POLR2A	chr5:77943092-77946191	HepG2	liver:	n/a	n/a
23	TAF1	chr5:77944227-77944601	GM12878	blood:	n/a	n/a
24	HMGN3	chr5:77943764-77945119	K562	blood:	n/a	n/a
25	CTCF	chr5:77944280-77944430	BJ	skin:	n/a	n/a
26	CTCF	chr5:77944180-77944330	GM12875	blood:	n/a	n/a
27	TAF1	chr5:77944251-77944777	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr5:77942997-77945191	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:77943680-77945129	MCF-7	breast:	n/a	n/a
30	YY1	chr5:77943888-77944729	GM12878	blood:	n/a	chr5:77944242-77944256 chr5:77944184-77944195 chr5:77944066-77944080 chr5:77944241-77944255 chr5:77944289-77944303 chr5:77944279-77944290 chr5:77944262-77944276 chr5:77944211-77944225
31	RAD21	chr5:77943662-77944854	SK-N-SH_RA	brain:	n/a	chr5:77944799-77944811
32	ZBTB7A	chr5:77944049-77944806	K562	blood:	n/a	chr5:77944251-77944262
33	POLR2A	chr5:77943225-77944771	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr5:77943912-77944438	K562	blood:	n/a	n/a
35	POLR2A	chr5:77943207-77945094	HepG2	liver:	n/a	n/a
36	POLR2A	chr5:77943210-77945277	GM18505	blood:	n/a	n/a
37	CTCF	chr5:77944300-77944450	GM12865	blood:	n/a	n/a
38	TAF1	chr5:77944212-77944976	H1-hESC	embryonic stem cell:	n/a	n/a
39	JUND	chr5:77943599-77944640	A549	lung:	n/a	n/a
40	POLR2A	chr5:77944266-77944616	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3AK20	chr5:77943812-77945242	PANC-1	pancreas:	n/a	n/a
42	TAF1	chr5:77944254-77944672	A549	lung:	n/a	n/a
43	CEBPD	chr5:77944264-77944761	HepG2	liver:	n/a	n/a
44	MAZ	chr5:77943814-77944791	HepG2	liver:	n/a	n/a
45	MAX	chr5:77943122-77944759	HepG2	liver:	n/a	chr5:77943471-77943481
46	ZBTB7A	chr5:77944106-77945417	ECC-1	luminal epithelium:	n/a	chr5:77944251-77944262 chr5:77945154-77945161
47	POLR2A	chr5:77943060-77944990	MCF10A-Er-Src	breast:	n/a	n/a
48	PBX3	chr5:77944223-77944427	GM12878	blood:	n/a	chr5:77944311-77944320
49	POLR2A	chr5:77944296-77944716	Hela-S3	cervix:	n/a	n/a
50	SMARCB1	chr5:77943211-77945306	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:77932938..77939935-chr5:77942023..77946135,10	MCF-7	breast:
2	chr5:77936618..77938171-chr5:77943031..77945738,2	K562	blood:
3	chr5:77943376..77944358-chr9:107509480..107510026,2	Hela-S3	cervix:
4	chr5:77940516..77942352-chr5:77943015..77944536,2	MCF-7	breast:

Variant related genes	Relation type
HMGB1P21	TF binding region
ENSG00000248909	Chromatin interaction
ENSG00000145685	Chromatin interaction
ENSG00000136783	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522738	chr5:77434730-78063683	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3522739	chr5:77434730-78063683	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv949530	chr5:77830403-78477017	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830356	chr5:77847022-78011999	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1021768	chr5:77881915-78465489	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv2762527	chr5:77921199-78548196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv1792242	chr5:77927033-77966625	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1841124	chr5:77937453-77944988	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv528833	chr5:77937453-78016860	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv598701	chr5:77940790-77944988	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3439355	chr5:77943421-77945969	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv12753	chr5:77943975-77945033	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv598702	chr5:77944003-77944829	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv598703	chr5:77944003-77944883	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv598704	chr5:77944003-77944988	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv1795250	chr5:77944003-77949565	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv1846202	chr5:77944003-77949565	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv598705	chr5:77944054-77944644	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv598706	chr5:77944054-77944718	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv598707	chr5:77944054-77944935	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv598708	chr5:77944157-77944718	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv598709	chr5:77944157-77944935	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv598710	chr5:77944157-77944988	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	nsv598711	chr5:77944208-77944935	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	nsv598712	chr5:77944208-77944988	Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:77941600-77945200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:77942200-77945000	Active TSS	GM12878-XiMat	blood
3	chr5:77942200-77945200	Active TSS	HSMMtube	muscle
4	chr5:77942200-77945400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:77942200-77945400	Active TSS	Rectal Smooth Muscle	rectum
6	chr5:77942200-77945600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:77942200-77945800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr5:77942600-77945200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:77942600-77945200	Active TSS	Fetal Stomach	stomach
10	chr5:77942600-77945400	Active TSS	Aorta	Aorta
11	chr5:77942600-77945400	Active TSS	Ovary	ovary
12	chr5:77942800-77945000	Active TSS	HMEC	breast
13	chr5:77942800-77945200	Active TSS	HSMM	muscle
14	chr5:77942800-77945200	Active TSS	NHLF	lung
15	chr5:77942800-77945400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:77942800-77945400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:77942800-77945400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr5:77942800-77945400	Active TSS	NHDF-Ad	bronchial
19	chr5:77942800-77945600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:77942800-77945600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr5:77942800-77945800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr5:77943000-77944400	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr5:77943000-77944400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:77943000-77945000	Active TSS	Muscle Satellite Cultured Cells	--
25	chr5:77943000-77945000	Active TSS	Fetal Intestine Small	intestine
26	chr5:77943000-77945200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:77943000-77945200	Active TSS	A549	lung
28	chr5:77943000-77945400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:77943000-77945400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:77943000-77945400	Active TSS	Fetal Intestine Large	intestine
31	chr5:77943000-77945400	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr5:77943000-77945600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr5:77943000-77945800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr5:77943000-77945800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr5:77943000-77946000	Active TSS	Fetal Kidney	kidney
36	chr5:77943200-77945200	Active TSS	Lung	lung
37	chr5:77943200-77945400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:77943200-77945400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:77943200-77945400	Active TSS	Colon Smooth Muscle	Colon
40	chr5:77943200-77945600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:77943200-77945600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:77943200-77945600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr5:77943200-77945600	Active TSS	HepG2	liver
44	chr5:77943200-77945800	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr5:77943400-77944400	Flanking Active TSS	Liver	Liver
46	chr5:77943400-77944600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:77943400-77945000	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr5:77943400-77945000	Active TSS	Fetal Muscle Leg	muscle
49	chr5:77943400-77945000	Active TSS	NHEK	skin
50	chr5:77943400-77945200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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