Variant report

Variant	rs190192041
Chromosome Location	chr5:14872763-14872764
allele	A/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	MXI1	chr5:14872540-14873040	HepG2	liver:	n/a	n/a
2	MAZ	chr5:14871738-14873010	K562	blood:	n/a	n/a
3	POLR2A	chr5:14871613-14873074	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:14871952-14873093	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr5:14871388-14873149	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr5:14871370-14873359	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr5:14871501-14873053	Hela-S3	cervix:	n/a	n/a
8	ELK1	chr5:14872041-14873057	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr5:14871347-14872907	SK-N-SH	brain:	n/a	chr5:14872424-14872437
10	POLR2A	chr5:14871612-14873123	Gliobla	brain:	n/a	n/a
11	MXI1	chr5:14870995-14873284	IMR90	lung:	n/a	n/a
12	MAZ	chr5:14871694-14872782	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:14871652-14873176	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr5:14871019-14873110	NB4	blood:	n/a	n/a
15	REST	chr5:14871432-14873159	H1-neurons	neurons:	n/a	chr5:14872218-14872231
16	POLR2A	chr5:14871471-14873051	NB4	blood:	n/a	n/a
17	SMARCB1	chr5:14871303-14873122	Hela-S3	cervix:	n/a	n/a
18	ZKSCAN1	chr5:14872316-14873076	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr5:14872113-14873183	HepG2	liver:	n/a	n/a
20	MAX	chr5:14871312-14873135	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr5:14871121-14873136	Hela-S3	cervix:	n/a	chr5:14872382-14872392
22	MAX	chr5:14871282-14872828	K562	blood:	n/a	n/a
23	POLR2A	chr5:14871570-14873197	IMR90	lung:	n/a	n/a
24	POLR2A	chr5:14872678-14873212	U87	brain:	n/a	n/a
25	CTCF	chr5:14870340-14873263	A549	lung:	n/a	chr5:14872424-14872437
26	POLR2A	chr5:14872659-14873212	U87	brain:	n/a	n/a
27	POLR2A	chr5:14871307-14873049	H1-neurons	neurons:	n/a	n/a
28	CEBPB	chr5:14871936-14873092	Hela-S3	cervix:	n/a	n/a
29	HMGN3	chr5:14871435-14873058	K562	blood:	n/a	n/a
30	MAX	chr5:14871565-14872883	A549	lung:	n/a	n/a
31	MAZ	chr5:14871122-14873170	IMR90	lung:	n/a	n/a
32	NRF1	chr5:14872379-14873187	SK-N-SH	brain:	n/a	chr5:14872452-14872461 chr5:14872405-14872414
33	TCF7L2	chr5:14872583-14873136	Hela-S3	cervix:	n/a	n/a
34	RFX5	chr5:14872475-14873151	Hela-S3	cervix:	n/a	n/a
35	MAZ	chr5:14871398-14873063	Hela-S3	cervix:	n/a	n/a
36	SIN3A	chr5:14872686-14873056	H1-hESC	embryonic stem cell:	n/a	chr5:14872873-14872887
37	MAX	chr5:14871275-14872814	MCF-7	breast:	n/a	n/a
38	POLR2A	chr5:14872602-14873162	U87	brain:	n/a	n/a
39	POLR2A	chr5:14871661-14872792	HUVEC	blood vessel:	n/a	n/a
40	CHD1	chr5:14871627-14873214	IMR90	lung:	n/a	chr5:14872382-14872392
41	POLR2A	chr5:14871510-14873189	ProgFib	skin:	n/a	n/a
42	MYC	chr5:14871060-14873114	Hela-S3	cervix:	n/a	n/a
43	TFAP2A	chr5:14871344-14873013	Hela-S3	cervix:	n/a	chr5:14871592-14871604 chr5:14872295-14872307 chr5:14872448-14872463 chr5:14872321-14872333
44	MAX	chr5:14871704-14872817	K562	blood:	n/a	n/a
45	MXI1	chr5:14871804-14873124	Hela-S3	cervix:	n/a	n/a
46	RCOR1	chr5:14871703-14873074	Hela-S3	cervix:	n/a	n/a
47	MXI1	chr5:14869184-14873385	SK-N-SH	brain:	n/a	chr5:14869848-14869857
48	BRCA1	chr5:14872602-14873086	Hela-S3	cervix:	n/a	n/a
49	MAX	chr5:14871697-14873072	NB4	blood:	n/a	n/a
50	TFAP2C	chr5:14871349-14873112	Hela-S3	cervix:	n/a	chr5:14872622-14872637

No.	Distal block	Cell Line	Cell type
1	chr16:15736896..15737522-chr5:14872268..14872832,2	Hela-S3	cervix:
2	chr5:14870499..14873628-chr5:14876677..14878722,3	MCF-7	breast:
3	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:
4	chr5:14871623..14873903-chr5:14874758..14876587,2	K562	blood:
5	chr5:14872363..14873864-chr6:26021710..26023410,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM105B-8	chr5:14872441-14872822	ENSG00000272057.1

Variant related genes	Relation type
ANKH	TF binding region
ENSG00000272213	Chromatin interaction
ENSG00000196176	Chromatin interaction
ENSG00000249928	Chromatin interaction
ENSG00000250662	Chromatin interaction
ENSG00000072864	Chromatin interaction
ENSG00000166783	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	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv969946	chr5:14867971-14880715	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3439895	chr5:14870477-14873325	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3409961	chr5:14870827-14873250	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3356858	chr5:14871502-14873150	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	13 gene(s)	inside rSNPs	diseases
11	nsv597258	chr5:14871848-14875868	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv597259	chr5:14871900-14875868	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv1833901	chr5:14871952-14884822	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14869400-14872800	Active TSS	Rectal Smooth Muscle	rectum
2	chr5:14869400-14873000	Active TSS	Aorta	Aorta
3	chr5:14869600-14873000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr5:14869600-14873200	Active TSS	Brain Cingulate Gyrus	brain
5	chr5:14869600-14873200	Active TSS	Fetal Intestine Small	intestine
6	chr5:14869800-14873000	Active TSS	Left Ventricle	heart
7	chr5:14869800-14873200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr5:14869800-14873200	Active TSS	Right Ventricle	heart
9	chr5:14870000-14872800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:14870000-14872800	Active TSS	Pancreas	Pancrea
11	chr5:14870000-14873000	Active TSS	Colonic Mucosa	Colon
12	chr5:14870000-14873000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr5:14870000-14873000	Active TSS	Esophagus	oesophagus
14	chr5:14870000-14873000	Active TSS	Fetal Intestine Large	intestine
15	chr5:14870200-14872800	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr5:14870200-14872800	Active TSS	Brain Hippocampus Middle	brain
17	chr5:14870200-14872800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr5:14870200-14872800	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr5:14870200-14872800	Active TSS	NHLF	lung
20	chr5:14870200-14873000	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr5:14870200-14873000	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr5:14870200-14873000	Active TSS	Gastric	stomach
23	chr5:14870200-14873000	Active TSS	Psoas Muscle	Psoas
24	chr5:14870200-14873000	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr5:14870200-14873000	Active TSS	HSMMtube	muscle
26	chr5:14870200-14873000	Active TSS	Osteobl	bone
27	chr5:14870200-14873200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:14870200-14873200	Active TSS	Brain Angular Gyrus	brain
29	chr5:14870200-14873200	Active TSS	Brain Anterior Caudate	brain
30	chr5:14870200-14873200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:14870200-14873400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr5:14870400-14872800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr5:14870400-14873000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:14870400-14873200	Active TSS	Colon Smooth Muscle	Colon
35	chr5:14870600-14872800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr5:14870600-14872800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:14870600-14872800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr5:14870600-14872800	Active TSS	A549	lung
39	chr5:14870600-14873000	Active TSS	NHDF-Ad	bronchial
40	chr5:14870600-14873200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:14870600-14873200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:14870800-14872800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:14870800-14872800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:14870800-14872800	Active TSS	NH-A	brain
45	chr5:14870800-14873000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:14870800-14873000	Active TSS	Duodenum Mucosa	Duodenum
47	chr5:14870800-14873000	Active TSS	Lung	lung
48	chr5:14870800-14873000	Active TSS	Ovary	ovary
49	chr5:14870800-14873000	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr5:14870800-14873200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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