Variant report

Variant	rs2857866
Chromosome Location	chr4:2936641-2936642
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:389)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:2936358-2937610	A549	lung:	n/a	n/a
2	JUND	chr4:2936501-2936704	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBL1XR1	chr4:2936486-2936812	K562	blood:	n/a	n/a
4	MXI1	chr4:2936472-2936747	K562	blood:	n/a	n/a
5	POLR2A	chr4:2936424-2937412	A549	lung:	n/a	n/a
6	POLR2A	chr4:2936416-2939933	GM18505	blood:	n/a	n/a
7	POLR2A	chr4:2936463-2940004	GM12891	blood:	n/a	n/a
8	TBP	chr4:2936457-2936887	K562	blood:	n/a	n/a
9	TCF3	chr4:2936491-2936824	GM12878	blood:	n/a	n/a
10	MAX	chr4:2936291-2937684	A549	lung:	n/a	n/a
11	NRF1	chr4:2936468-2936841	GM12878	blood:	n/a	n/a
12	BHLHE40	chr4:2936444-2936845	HepG2	liver:	n/a	chr4:2936554-2936570
13	POLR2A	chr4:2936427-2939614	Hela-S3	cervix:	n/a	n/a
14	GABPA	chr4:2936462-2937058	HepG2	liver:	n/a	n/a
15	CTCF	chr4:2936500-2936650	AG04449	skin:	n/a	chr4:2936558-2936567
16	GABPA	chr4:2936351-2937000	SK-N-SH	brain:	n/a	n/a
17	YY1	chr4:2936436-2936960	HepG2	liver:	n/a	n/a
18	MAX	chr4:2936458-2936839	HepG2	liver:	n/a	n/a
19	ZEB1	chr4:2936469-2936779	GM12878	blood:	n/a	n/a
20	SP1	chr4:2936477-2936820	HepG2	liver:	n/a	chr4:2936564-2936573 chr4:2936590-2936600 chr4:2936562-2936574 chr4:2936562-2936574
21	TAF1	chr4:2936449-2936818	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr4:2935540-2939822	Hela-S3	cervix:	n/a	n/a
23	MAX	chr4:2936301-2939648	HCT-116	colon:	n/a	n/a
24	E2F4	chr4:2936461-2936764	MCF10A-Er-Src	breast:	n/a	n/a
25	CREB1	chr4:2936460-2936933	H1-hESC	embryonic stem cell:	n/a	n/a
26	POU2F2	chr4:2936419-2937225	GM12891	blood:	n/a	n/a
27	HCFC1	chr4:2936424-2938309	Hela-S3	cervix:	n/a	n/a
28	SIN3A	chr4:2936536-2937068	GM12878	blood:	n/a	n/a
29	ELF1	chr4:2936430-2936858	K562	blood:	n/a	chr4:2936596-2936605 chr4:2936595-2936606 chr4:2936593-2936606
30	MTA3	chr4:2936419-2940060	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:2936420-2939905	K562	blood:	n/a	n/a
32	POLR2A	chr4:2936475-2940008	GM12891	blood:	n/a	n/a
33	JUND	chr4:2936436-2937292	K562	blood:	n/a	n/a
34	SP1	chr4:2936451-2936839	GM12878	blood:	n/a	chr4:2936564-2936573 chr4:2936590-2936600 chr4:2936562-2936574 chr4:2936562-2936574
35	SIN3AK20	chr4:2936414-2939621	HCT-116	colon:	n/a	n/a
36	PAX5	chr4:2936432-2936844	GM12878	blood:	n/a	n/a
37	YY1	chr4:2936453-2937238	GM12878	blood:	n/a	n/a
38	EBF1	chr4:2936465-2936729	GM12878	blood:	n/a	n/a
39	SIN3AK20	chr4:2936463-2936768	HepG2	liver:	n/a	n/a
40	SP1	chr4:2936421-2937400	HCT-116	colon:	n/a	chr4:2936564-2936573 chr4:2936590-2936600 chr4:2936562-2936574 chr4:2936562-2936574
41	PML	chr4:2936478-2936936	K562	blood:	n/a	n/a
42	POLR2A	chr4:2936446-2936922	HUVEC	blood vessel:	n/a	n/a
43	MAX	chr4:2936447-2936752	K562	blood:	n/a	n/a
44	GABPA	chr4:2936452-2936962	Hela-S3	cervix:	n/a	n/a
45	SIN3AK20	chr4:2936463-2937112	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr4:2936428-2940062	K562	blood:	n/a	n/a
47	ELF1	chr4:2936433-2936860	HepG2	liver:	n/a	chr4:2936596-2936605 chr4:2936595-2936606 chr4:2936593-2936606
48	ETS1	chr4:2936466-2936940	K562	blood:	n/a	chr4:2936597-2936606 chr4:2936598-2936608 chr4:2936597-2936606
49	CREB1	chr4:2936460-2936919	A549	lung:	n/a	n/a
50	POLR2A	chr4:2936362-2937061	Gliobla	brain:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2756410..2759745-chr4:2935120..2939466,6	K562	blood:
2	chr4:2830493..2833231-chr4:2936573..2940194,3	MCF-7	breast:
3	chr12:69201868..69202426-chr4:2936526..2937190,2	Hela-S3	cervix:
4	chr4:2903718..2915473-chr4:2930612..2941584,27	MCF-7	breast:
5	chr4:2795447..2803617-chr4:2934606..2939244,18	MCF-7	breast:
6	chr4:2818590..2823604-chr4:2934968..2940177,8	MCF-7	breast:
7	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
8	chr4:2935808..2938115-chr4:3076304..3078834,3	K562	blood:
9	chr4:2744637..2750348-chr4:2934999..2939149,7	MCF-7	breast:
10	chr4:2866956..2870306-chr4:2932983..2937533,4	K562	blood:
11	chr1:149856723..149858846-chr4:2935922..2938266,2	MCF-7	breast:
12	chr4:2876022..2879054-chr4:2934409..2936795,3	MCF-7	breast:
13	chr4:2756586..2759605-chr4:2935863..2938872,4	K562	blood:
14	chr4:2936565..2939326-chr4:2970679..2973500,2	K562	blood:
15	chr4:2842030..2853279-chr4:2934021..2940851,24	MCF-7	breast:
16	chr4:2935142..2937747-chr4:2962615..2966345,4	MCF-7	breast:
17	chr4:2867681..2870567-chr4:2936383..2939288,2	MCF-7	breast:
18	chr4:2898532..2900285-chr4:2936066..2937849,2	MCF-7	breast:
19	chr4:2936328..2940860-chr4:2961848..2966602,8	K562	blood:
20	chr4:774518..776312-chr4:2935741..2938166,2	MCF-7	breast:
21	chr4:2753882..2759883-chr4:2932429..2941474,15	MCF-7	breast:
22	chr4:2906552..2911481-chr4:2934891..2942965,11	MCF-7	breast:
23	chr4:2844179..2847079-chr4:2935598..2937938,4	MCF-7	breast:
24	chr4:2936215..2937210-chr6:30712290..30712902,2	Hela-S3	cervix:
25	chr17:56736053..56736784-chr4:2936104..2936931,2	MCF-7	breast:
26	chr18:3447926..3450158-chr4:2936583..2939331,2	MCF-7	breast:
27	chr4:2818330..2820965-chr4:2936129..2938646,4	MCF-7	breast:
28	chr10:1094654..1095194-chr4:2936214..2937126,2	HCT-116	colon:
29	chr4:2936453..2937117-chr6:26123746..26124250,2	Hela-S3	cervix:
30	chr4:2913655..2916522-chr4:2935033..2937103,2	MCF-7	breast:

No data

Variant related genes	Relation type
MFSD10	TF binding region
NOP14-AS1	TF binding region
ENSG00000197386	Chromatin interaction
ENSG00000125388	Chromatin interaction
ENSG00000087266	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000135679	Chromatin interaction
ENSG00000087269	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000168884	Chromatin interaction
ENSG00000249592	Chromatin interaction
ENSG00000067064	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000177426	Chromatin interaction
ENSG00000180596	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1012365	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1263339	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1263342	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1263344	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1263345	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1263347	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12642795	0.83[EUR][1000 genomes]
rs1419045	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2051560	0.82[EUR][1000 genomes]
rs2185885	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2282772	0.83[EUR][1000 genomes]
rs2282774	0.83[EUR][1000 genomes]
rs2301374	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4690065	0.83[EUR][1000 genomes]
rs4963	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4964	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv3440752	chr4:2934679-2937727	Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	esv3446681	chr4:2934779-2937527	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2934200-2937400	Active TSS	HSMM	muscle
2	chr4:2934800-2937200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:2934800-2937600	Active TSS	A549	lung
4	chr4:2935000-2937400	Active TSS	Small Intestine	intestine
5	chr4:2935000-2937800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr4:2935200-2937000	Active TSS	Brain Substantia Nigra	brain
7	chr4:2935200-2937200	Active TSS	Colon Smooth Muscle	Colon
8	chr4:2935200-2937200	Active TSS	HSMMtube	muscle
9	chr4:2935200-2937400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:2935200-2937400	Active TSS	Fetal Kidney	kidney
11	chr4:2935200-2938000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr4:2935200-2938000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr4:2935400-2937000	Active TSS	Rectal Smooth Muscle	rectum
14	chr4:2935400-2937000	Active TSS	Osteobl	bone
15	chr4:2935400-2937200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:2935400-2937200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr4:2935400-2937200	Active TSS	Ovary	ovary
18	chr4:2935400-2937200	Active TSS	K562	blood
19	chr4:2935400-2937200	Active TSS	NHEK	skin
20	chr4:2935400-2937400	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr4:2935400-2937400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:2935400-2937400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr4:2935400-2937600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr4:2935400-2937600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:2935400-2937600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:2935400-2937800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr4:2935400-2938000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr4:2935600-2937000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr4:2935600-2937000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:2935600-2937000	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr4:2935600-2937000	Active TSS	Esophagus	oesophagus
32	chr4:2935600-2937000	Active TSS	Fetal Brain Female	brain
33	chr4:2935600-2937000	Active TSS	Fetal Stomach	stomach
34	chr4:2935600-2937200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:2935600-2937200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:2935600-2937200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:2935600-2937200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:2935600-2937200	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr4:2935600-2937200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr4:2935600-2937200	Active TSS	Brain Angular Gyrus	brain
41	chr4:2935600-2937200	Active TSS	Brain Anterior Caudate	brain
42	chr4:2935600-2937200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr4:2935600-2937200	Active TSS	Fetal Lung	lung
44	chr4:2935600-2937200	Active TSS	Lung	lung
45	chr4:2935600-2937400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:2935600-2937400	Active TSS	Aorta	Aorta
47	chr4:2935600-2937400	Active TSS	NHDF-Ad	bronchial
48	chr4:2935800-2936800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:2935800-2936800	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr4:2935800-2936800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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