Variant report

Variant	rs116348803
Chromosome Location	chr4:166128204-166128205
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:166128036-166129469	Hela-S3	cervix:	n/a	n/a
2	MAX	chr4:166128185-166129425	K562	blood:	n/a	n/a
3	MAX	chr4:166128142-166129106	MCF-7	breast:	n/a	n/a
4	CHD2	chr4:166128187-166128254	GM12878	blood:	n/a	n/a
5	MAX	chr4:166128068-166129172	Hela-S3	cervix:	n/a	n/a
6	KAP1	chr4:166127562-166128357	U2OS	brain:	n/a	n/a
7	CTCF	chr4:166128100-166128250	GM12864	blood:	n/a	n/a
8	RCOR1	chr4:166128117-166128699	Hela-S3	cervix:	n/a	n/a
9	TBP	chr4:166128147-166128371	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr4:166128134-166128988	SK-N-SH	brain:	n/a	n/a
11	RCOR1	chr4:166127586-166129783	IMR90	lung:	n/a	n/a
12	REST	chr4:166128008-166128287	Hela-S3	cervix:	n/a	n/a
13	MAZ	chr4:166127729-166129602	IMR90	lung:	n/a	n/a
14	REST	chr4:166127992-166128323	HepG2	liver:	n/a	n/a
15	MAZ	chr4:166128158-166129521	K562	blood:	n/a	n/a
16	MAFF	chr4:166128069-166128361	HepG2	liver:	n/a	chr4:166128159-166128177
17	POLR2A	chr4:166128075-166128229	GM12878	blood:	n/a	n/a
18	RAD21	chr4:166128136-166128379	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr4:166128013-166129400	GM19099	blood:	n/a	n/a
20	MAX	chr4:166127983-166129419	HepG2	liver:	n/a	n/a
21	REST	chr4:166128046-166128252	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr4:166128145-166129531	GM19193	blood:	n/a	n/a
23	REST	chr4:166127966-166128290	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr4:166128056-166129241	HepG2	liver:	n/a	n/a
25	MXI1	chr4:166128108-166129488	GM12878	blood:	n/a	n/a
26	MAX	chr4:166128006-166129341	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr4:166127963-166128302	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:166128200-166129235	IMR90	lung:	n/a	n/a
29	ZNF263	chr4:166127798-166129262	HEK293-T-REx	kidney:	n/a	n/a
30	RCOR1	chr4:166127429-166129772	K562	blood:	n/a	n/a
31	KAP1	chr4:166127640-166128925	HEK293	kidney:	n/a	n/a
32	MAZ	chr4:166128188-166129019	Hela-S3	cervix:	n/a	n/a
33	SMC3	chr4:166128155-166128384	Hela-S3	cervix:	n/a	n/a
34	RCOR1	chr4:166127915-166128285	HepG2	liver:	n/a	n/a
35	MAX	chr4:166128074-166129367	GM12878	blood:	n/a	n/a
36	REST	chr4:166127891-166128230	A549	lung:	n/a	n/a
37	ELF1	chr4:166127968-166129098	HCT-116	colon:	n/a	chr4:166128745-166128758 chr4:166128748-166128757 chr4:166128747-166128758 chr4:166128747-166128758
38	TAF1	chr4:166127825-166129313	H1-neurons	neurons:	n/a	n/a
39	SIN3A	chr4:166127790-166129627	H1-hESC	embryonic stem cell:	n/a	chr4:166129187-166129200 chr4:166128730-166128743 chr4:166129194-166129208 chr4:166129315-166129328
40	MYC	chr4:166128010-166129223	K562	blood:	n/a	n/a
41	REST	chr4:166127873-166128751	HL-60	blood:	n/a	chr4:166128722-166128729
42	POLR2A	chr4:166128101-166129671	GM18505	blood:	n/a	n/a
43	POLR2A	chr4:166128077-166129835	H1-neurons	neurons:	n/a	n/a
44	STAT5A	chr4:166127973-166128534	GM12878	blood:	n/a	chr4:166128259-166128267
45	MAX	chr4:166127823-166128394	H1-hESC	embryonic stem cell:	n/a	n/a
46	MTA3	chr4:166127826-166128434	GM12878	blood:	n/a	n/a
47	REST	chr4:166127627-166129571	H1-neurons	neurons:	n/a	chr4:166128899-166128912 chr4:166128722-166128729 chr4:166129315-166129328 chr4:166129128-166129148
48	REST	chr4:166127844-166128832	ECC-1	luminal epithelium:	n/a	chr4:166128722-166128729
49	REST	chr4:166127978-166128233	PFSK-1	brain:	n/a	n/a
50	MXI1	chr4:166127612-166130368	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:166128178-166128228	HRPEpiC	eye:	n/a
2	chr4:166128178-166128228	T-47D	breast:	n/a
3	chr4:166128178-166128228	LNCaP	prostate:	n/a
4	chr4:166128178-166128228	MCF10A-Er-Src	breast:	n/a
5	chr4:166128178-166128228	Hela-S3	cervix:	n/a
6	chr4:166128178-166128228	HRCEpiC	kidney:	n/a
7	chr4:166128178-166128228	AG10803	skin:	n/a
8	chr4:166128178-166128228	GM12878	blood:	n/a
9	chr4:166128178-166128228	A549	lung:	n/a
10	chr4:166128178-166128228	HUVEC	blood vessel:	n/a
11	chr4:166128178-166128228	HCF	heart:	n/a
12	chr4:166128178-166128228	RPTEC	kidney:	n/a
13	chr4:166128178-166128228	HIPEpiC	eye:	n/a
14	chr4:166128178-166128228	PFSK-1	brain:	n/a
15	chr4:166128178-166128228	AG04450	lung:	fetal
16	chr4:166128178-166128228	HAEpiC	amniotic membrane:	n/a
17	chr4:166128178-166128228	AoSMC	blood vessel:	n/a
18	chr4:166128178-166128228	NH-A	brain:	n/a
19	chr4:166128178-166128228	SAEC	small airway:	n/a
20	chr4:166128178-166128228	CMK	blood:	n/a
21	chr4:166128178-166128228	GM06990	blood:	n/a
22	chr4:166128178-166128228	HMEC	breast:	n/a
23	chr4:166128178-166128228	GM19239	blood:	n/a
24	chr4:166128178-166128228	Caco-2	colon:	n/a
25	chr4:166128178-166128228	AG04449	skin:	fetal
26	chr4:166128178-166128228	SK-N-SH	brain:	n/a
27	chr4:166128178-166128228	NT2-D1	testis:	n/a
28	chr4:166128178-166128228	ECC-1	luminal epithelium:	n/a
29	chr4:166128178-166128228	PrEC	prostate:	n/a
30	chr4:166128178-166128228	ProgFib	skin:	n/a
31	chr4:166128178-166128228	HCPEpiC	choroid plexus:	n/a
32	chr4:166128178-166128228	HPAEpiC	pulmonary alveolar:	n/a
33	chr4:166128178-166128228	SK-N-SH_RA	brain:	n/a
34	chr4:166128178-166128228	GM12892	blood:	n/a
35	chr4:166128178-166128228	Hepatocyte	liver:	n/a
36	chr4:166128178-166128228	NHDF-neo	bronchial:	n/a
37	chr4:166128178-166128228	HL-60	blood:	n/a
38	chr4:166128178-166128228	PANC-1	pancreas:	n/a
39	chr4:166128178-166128228	SK-N-MC	brain:	n/a
40	chr4:166128178-166128228	GM12891	blood:	n/a
41	chr4:166128178-166128228	Jurkat	blood:	n/a
42	chr4:166128178-166128228	NB4	blood:	n/a
43	chr4:166128178-166128228	K562	blood:	n/a
44	chr4:166128178-166128228	ovcar-3	ovarian:	n/a
45	chr4:166128178-166128228	BE2_C	brain:	n/a
46	chr4:166128178-166128228	HEEpiC	esophagus:	n/a
47	chr4:166128178-166128228	HNPCEpiC	eye:	n/a
48	chr4:166128178-166128228	HCM	heart:	n/a
49	chr4:166128178-166128228	MCF-7	breast:	n/a
50	chr4:166128178-166128228	AG09319	gingival:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:166126308..166130366-chr4:166247405..166251145,5	K562	blood:
2	chr4:166114045..166117632-chr4:166124756..166128607,4	K562	blood:
3	chr4:166126423..166128941-chr4:166299614..166301287,2	MCF-7	breast:
4	chr4:166127800..166130090-chr4:166130347..166132969,2	MCF-7	breast:
5	chr4:166127386..166130072-chr4:166247171..166250406,6	MCF-7	breast:
6	chr4:166127276..166130366-chr4:166247405..166250443,3	K562	blood:

No data

Variant related genes	Relation type
KLHL2	TF binding region
KLHL2	CpG island
ENSG00000052802	Chromatin interaction
ENSG00000109472	Chromatin interaction
ENSG00000109466	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv3357278	chr4:166127527-166130075	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	nsv596048	chr4:166127619-166129032	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	esv3444781	chr4:166127852-166130050	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
9	esv3341185	chr4:166127927-166130475	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166127200-166128400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr4:166127400-166128400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
3	chr4:166127400-166128400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr4:166127600-166128400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:166127600-166128400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:166127600-166128400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
7	chr4:166127600-166128400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
8	chr4:166127600-166128400	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr4:166127600-166128400	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr4:166127600-166128400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr4:166127600-166128400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr4:166127600-166128400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr4:166127600-166128400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:166127600-166128400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr4:166127600-166128400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr4:166127600-166128400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:166127600-166128400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:166127600-166128400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:166127600-166128400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:166127600-166128400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:166127600-166128400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:166127600-166128400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr4:166127600-166128400	Flanking Active TSS	Liver	Liver
24	chr4:166127600-166128400	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr4:166127600-166128400	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr4:166127600-166128400	Flanking Active TSS	Fetal Brain Female	brain
27	chr4:166127600-166128400	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr4:166127600-166128400	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr4:166127600-166128400	Flanking Active TSS	Fetal Stomach	stomach
30	chr4:166127600-166128400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr4:166127600-166128400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr4:166127600-166128400	Flanking Active TSS	Stomach Mucosa	stomach
33	chr4:166127600-166128400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr4:166127600-166128400	Flanking Active TSS	Spleen	Spleen
35	chr4:166127600-166128400	Flanking Active TSS	Dnd41	blood
36	chr4:166127600-166128400	Flanking Active TSS	GM12878-XiMat	blood
37	chr4:166127600-166128400	Flanking Active TSS	HUVEC	blood vessel
38	chr4:166127600-166128400	Flanking Active TSS	NHEK	skin
39	chr4:166127600-166128400	Flanking Active TSS	Osteobl	bone
40	chr4:166127600-166128600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:166127600-166128600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr4:166127600-166129200	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr4:166127600-166129400	Active TSS	Hela-S3	cervix
44	chr4:166127600-166129800	Active TSS	Colonic Mucosa	Colon
45	chr4:166127800-166128400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:166127800-166128400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
47	chr4:166127800-166128400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:166127800-166128400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr4:166127800-166128400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr4:166127800-166128400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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