Variant report

Variant	rs335430
Chromosome Location	chr5:176921072-176921073
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	POLR2A	chr5:176919037-176923987	H1-hESC	embryonic stem cell:	n/a	n/a
2	STAT3	chr5:176921061-176921534	MCF10A-Er-Src	breast:	n/a	n/a
3	HEY1	chr5:176920762-176925766	K562	blood:	n/a	chr5:176924290-176924305 chr5:176924354-176924369
4	POLR2A	chr5:176920718-176925182	GM12878	blood:	n/a	n/a
5	JUN	chr5:176920923-176925966	K562	blood:	n/a	chr5:176921780-176921792 chr5:176921781-176921791 chr5:176923863-176923871 chr5:176923859-176923870 chr5:176921782-176921790 chr5:176923861-176923872 chr5:176921566-176921575 chr5:176924269-176924277 chr5:176924268-176924278 chr5:176923861-176923873
6	POLR2A	chr5:176920925-176925879	K562	blood:	n/a	n/a
7	POLR2A	chr5:176921019-176921899	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr5:176920960-176921110	AG10803	skin:	n/a	n/a
9	POLR2A	chr5:176921017-176921468	HepG2	liver:	n/a	n/a
10	POLR2A	chr5:176919522-176925218	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:176920625-176922930	Hela-S3	cervix:	n/a	n/a
12	FOS	chr5:176921031-176922042	MCF10A-Er-Src	breast:	n/a	chr5:176921780-176921792 chr5:176921781-176921791 chr5:176921782-176921790 chr5:176921566-176921575 chr5:176921780-176921791
13	SMARCB1	chr5:176920859-176922786	Hela-S3	cervix:	n/a	chr5:176921781-176921790
14	NR2F2	chr5:176920921-176921576	K562	blood:	n/a	n/a
15	POLR2A	chr5:176919141-176926267	K562	blood:	n/a	n/a
16	MAZ	chr5:176919747-176925761	IMR90	lung:	n/a	chr5:176921985-176921995 chr5:176921861-176921871 chr5:176922286-176922295
17	TCF12	chr5:176921030-176923881	A549	lung:	n/a	chr5:176923312-176923322 chr5:176921644-176921654
18	POLR2A	chr5:176919463-176925374	HUVEC	blood vessel:	n/a	n/a
19	PML	chr5:176921025-176921910	K562	blood:	n/a	chr5:176921729-176921737
20	MXI1	chr5:176920809-176925194	IMR90	lung:	n/a	n/a
21	POLR2A	chr5:176920827-176922980	K562	blood:	n/a	n/a
22	POLR2A	chr5:176918995-176926109	K562	blood:	n/a	n/a
23	POLR2A	chr5:176920839-176925223	U87	brain:	n/a	n/a
24	POLR2A	chr5:176919581-176923206	K562	blood:	n/a	n/a
25	SPI1	chr5:176920963-176921834	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:176921059-176921371	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:176919048-176925643	H1-hESC	embryonic stem cell:	n/a	n/a
28	EP300	chr5:176921035-176922203	A549	lung:	n/a	chr5:176922179-176922186 chr5:176921048-176921057
29	NR2F2	chr5:176920746-176922225	K562	blood:	n/a	n/a
30	POLR2A	chr5:176919040-176925033	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr5:176919035-176922481	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr5:176920961-176925217	U87	brain:	n/a	n/a
33	POLR2A	chr5:176920940-176925306	Hela-S3	cervix:	n/a	n/a
34	EP300	chr5:176921057-176921952	K562	blood:	n/a	n/a
35	TEAD4	chr5:176920930-176921587	K562	blood:	n/a	n/a
36	POLR2A	chr5:176920735-176923316	GM12892	blood:	n/a	n/a
37	POLR2A	chr5:176920847-176922306	HCT-116	colon:	n/a	n/a
38	POLR2A	chr5:176921022-176922774	K562	blood:	n/a	n/a
39	POLR2A	chr5:176921044-176921433	GM12891	blood:	n/a	n/a
40	POLR2A	chr5:176917877-176925482	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr5:176919503-176922244	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr5:176919309-176925665	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr5:176920828-176921570	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr5:176920926-176921570	GM12892	blood:	n/a	n/a
45	POLR2A	chr5:176915763-176926210	K562	blood:	n/a	n/a
46	POLR2A	chr5:176920871-176922297	K562	blood:	n/a	n/a
47	POLR2A	chr5:176919633-176925489	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr5:176919626-176925142	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr5:176921032-176925100	MCF10A-Er-Src	breast:	n/a	n/a
50	SPI1	chr5:176921066-176921731	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:176920960..176922896-chr5:177025688..177028644,2	K562	blood:
2	chr5:176918624..176922037-chr5:177026653..177029036,4	MCF-7	breast:
3	chr5:176733741..176736131-chr5:176921060..176924841,3	MCF-7	breast:
4	chr5:176920960..176923857-chr5:177025688..177028389,2	K562	blood:
5	chr5:176736901..176740398-chr5:176920138..176924378,4	MCF-7	breast:

Variant related genes	Relation type
PDLIM7	TF binding region
ENSG00000248996	TF binding region
ENSG00000213347	Chromatin interaction
ENSG00000027847	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs337369	1.00[MKK][hapmap]
rs337387	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv883158	chr5:176726635-176931706	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv883160	chr5:176740996-176952919	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
5	nsv883161	chr5:176754722-176958397	Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
6	nsv1020334	chr5:176779108-176954933	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
7	nsv883164	chr5:176780545-177003616	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
8	esv1816147	chr5:176787037-176966509	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv883166	chr5:176817636-176940384	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
10	nsv883170	chr5:176824137-176952919	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv883173	chr5:176842474-176931706	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
12	nsv883174	chr5:176842474-176940384	Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
13	nsv883175	chr5:176842474-176952919	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
14	nsv883176	chr5:176843297-176924175	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
15	nsv1030965	chr5:176851182-176937654	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
16	nsv1026103	chr5:176851182-176942552	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
17	nsv1022832	chr5:176861503-176937654	Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
18	nsv1018088	chr5:176861503-176942552	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
19	nsv1028123	chr5:176861503-176949149	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
20	nsv537965	chr5:176861503-176949149	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
21	nsv883177	chr5:176868358-177003616	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
22	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
23	nsv883179	chr5:176912073-176926674	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
24	nsv883180	chr5:176912073-176937177	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:176901600-176923000	Weak transcription	Brain Angular Gyrus	brain
2	chr5:176907200-176921200	Weak transcription	Small Intestine	intestine
3	chr5:176907200-176921800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:176910200-176921200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:176911000-176923000	Weak transcription	Dnd41	blood
6	chr5:176913000-176922400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:176914400-176921400	Genic enhancers	Fetal Muscle Trunk	muscle
8	chr5:176914800-176922800	Weak transcription	Fetal Kidney	kidney
9	chr5:176914800-176923600	Weak transcription	Pancreas	Pancrea
10	chr5:176915400-176921200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:176916000-176921800	Genic enhancers	Fetal Muscle Leg	muscle
12	chr5:176916200-176921200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:176916400-176921200	Genic enhancers	Fetal Stomach	stomach
14	chr5:176916400-176921800	Genic enhancers	Placenta	Placenta
15	chr5:176916400-176922000	Weak transcription	Liver	Liver
16	chr5:176916600-176921600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:176916600-176922200	Enhancers	Fetal Heart	heart
18	chr5:176916600-176923200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:176916800-176923800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
20	chr5:176917000-176922000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr5:176917000-176922800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:176917200-176921200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:176917400-176921400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:176917600-176921200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:176917600-176922000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:176917800-176924200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:176918000-176922200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:176918000-176922600	Weak transcription	Primary T cells from cord blood	blood
29	chr5:176918000-176923000	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:176918400-176921200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:176918400-176923000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:176918400-176923000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr5:176918400-176923000	Weak transcription	Brain Anterior Caudate	brain
34	chr5:176918400-176923600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:176918600-176921200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:176918600-176921400	Genic enhancers	Lung	lung
37	chr5:176918600-176922200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr5:176918600-176922400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:176918600-176923000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr5:176918800-176921200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:176918800-176921200	Genic enhancers	Aorta	Aorta
42	chr5:176919200-176921200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:176919200-176921200	Genic enhancers	HMEC	breast
44	chr5:176919200-176921600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
45	chr5:176919200-176922200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:176919400-176921200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:176919400-176921800	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr5:176919400-176923000	Genic enhancers	K562	blood
49	chr5:176919600-176921200	Weak transcription	Esophagus	oesophagus
50	chr5:176919600-176921200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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