Variant report

Variant	rs376866110
Chromosome Location	chr6:4021062-4021063
allele	lengthTooLong
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:4020913-4022072	PFSK-1	brain:	n/a	n/a
2	BHLHE40	chr6:4021012-4022324	GM12878	blood:	n/a	chr6:4021905-4021921 chr6:4021972-4021988
3	MAX	chr6:4021000-4022373	HCT-116	colon:	n/a	n/a
4	MYBL2	chr6:4020900-4022360	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:4021052-4022361	GM12892	blood:	n/a	n/a
6	POLR2A	chr6:4021060-4021969	ProgFib	skin:	n/a	n/a
7	POLR2A	chr6:4021051-4022249	HL-60	blood:	n/a	n/a
8	MXI1	chr6:4020932-4022924	IMR90	lung:	n/a	n/a
9	MYC	chr6:4020304-4022486	K562	blood:	n/a	n/a
10	TBP	chr6:4020951-4022393	K562	blood:	n/a	n/a
11	TBP	chr6:4021050-4022647	HepG2	liver:	n/a	n/a
12	YY1	chr6:4021035-4022669	SK-N-SH	brain:	n/a	chr6:4021979-4021990 chr6:4021655-4021667
13	POLR2A	chr6:4020325-4022372	K562	blood:	n/a	n/a
14	STAT5A	chr6:4021061-4022137	K562	blood:	n/a	n/a
15	ZNF143	chr6:4020991-4022320	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:4021031-4022212	PANC-1	pancreas:	n/a	n/a
17	UBTF	chr6:4020995-4022397	K562	blood:	n/a	n/a
18	POLR2A	chr6:4020353-4022370	K562	blood:	n/a	n/a
19	POLR2A	chr6:4020887-4022236	HepG2	liver:	n/a	n/a
20	PML	chr6:4020729-4022360	K562	blood:	n/a	n/a
21	CUX1	chr6:4021061-4021571	K562	blood:	n/a	n/a
22	POLR2A	chr6:4020988-4022248	K562	blood:	n/a	n/a
23	POLR2A	chr6:4020181-4022367	K562	blood:	n/a	n/a
24	TCF12	chr6:4021038-4022141	A549	lung:	n/a	n/a
25	PML	chr6:4020733-4022274	K562	blood:	n/a	n/a
26	POLR2A	chr6:4020966-4022313	Raji	blood:	n/a	n/a
27	POLR2A	chr6:4021036-4022000	HCT-116	colon:	n/a	n/a
28	MAX	chr6:4021046-4022238	A549	lung:	n/a	n/a
29	GABPA	chr6:4020865-4022021	A549	lung:	n/a	n/a
30	ELK1	chr6:4021033-4021871	GM12878	blood:	n/a	n/a
31	ARID3A	chr6:4021036-4021746	HepG2	liver:	n/a	n/a
32	HEY1	chr6:4020890-4022278	K562	blood:	n/a	n/a
33	POLR2A	chr6:4020889-4022961	GM12891	blood:	n/a	n/a
34	STAT5A	chr6:4021045-4022239	GM12878	blood:	n/a	n/a
35	HCFC1	chr6:4020974-4022334	K562	blood:	n/a	n/a
36	MAX	chr6:4021034-4022233	Hela-S3	cervix:	n/a	n/a
37	REST	chr6:4020895-4022582	H1-neurons	neurons:	n/a	n/a
38	TBP	chr6:4021030-4022046	GM12878	blood:	n/a	n/a
39	ELF1	chr6:4021048-4022034	MCF-7	breast:	n/a	chr6:4021457-4021466
40	MYC	chr6:4021010-4022879	K562	blood:	n/a	n/a
41	POLR2A	chr6:4020990-4022294	GM18951	blood:	n/a	n/a
42	PML	chr6:4020952-4022208	GM12878	blood:	n/a	n/a
43	EP300	chr6:4020937-4022341	GM12878	blood:	n/a	chr6:4021904-4021920
44	CHD1	chr6:4021012-4024108	IMR90	lung:	n/a	chr6:4021945-4021955
45	GABPA	chr6:4021048-4022033	SK-N-SH	brain:	n/a	n/a
46	CREB1	chr6:4020985-4022258	HepG2	liver:	n/a	n/a
47	HEY1	chr6:4020973-4022409	K562	blood:	n/a	n/a
48	POLR2A	chr6:4020938-4022275	SK-N-MC	brain:	n/a	n/a
49	MXI1	chr6:4021015-4022318	HepG2	liver:	n/a	n/a
50	POLR2A	chr6:4021060-4022365	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4016355..4024618-chr6:4131840..4138381,21	K562	blood:
2	chr6:4017302..4025509-chr6:4131840..4138381,19	K562	blood:
3	chr6:4019656..4024130-chr6:4049502..4053557,5	K562	blood:
4	chr6:4016030..4019961-chr6:4020836..4023596,5	MCF-7	breast:
5	chr6:3064193..3067093-chr6:4018828..4021333,2	K562	blood:
6	chr6:4020118..4022120-chr6:4056131..4059470,3	K562	blood:
7	chr17:39844666..39845562-chr6:4020847..4021646,2	Hela-S3	cervix:
8	chr6:4020118..4023028-chr6:4056131..4059224,3	K562	blood:

No data

Variant related genes	Relation type
PRPF4B	TF binding region
ENSG00000272248	Chromatin interaction
ENSG00000112739	Chromatin interaction
ENSG00000137275	Chromatin interaction
ENSG00000198721	Chromatin interaction
ENSG00000234817	Chromatin interaction
ENSG00000254821	Chromatin interaction
ENSG00000145975	Chromatin interaction
ENSG00000173812	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2370815	chr6:4020815-4021256	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3322393	chr6:4020998-4021068	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv1658451	chr6:4021014-4021064	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv2493637	chr6:4021015-4021064	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	8 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	chr6:4017400-4023000	Active TSS	K562	blood
2	chr6:4019000-4021200	Weak transcription	Gastric	stomach
3	chr6:4019000-4021200	Weak transcription	Spleen	Spleen
4	chr6:4019200-4021200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:4019200-4021200	Weak transcription	Esophagus	oesophagus
6	chr6:4019200-4021200	Weak transcription	Lung	lung
7	chr6:4019200-4021200	Flanking Active TSS	Dnd41	blood
8	chr6:4019400-4021200	Weak transcription	Aorta	Aorta
9	chr6:4019600-4021200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:4019600-4023000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:4019800-4021200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:4019800-4021200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:4019800-4021200	Weak transcription	Small Intestine	intestine
14	chr6:4020000-4021200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:4020000-4023000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:4020000-4023200	Active TSS	HSMM	muscle
17	chr6:4020000-4023400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:4020200-4022800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:4020400-4021200	Weak transcription	Pancreas	Pancrea
20	chr6:4020400-4021400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr6:4020600-4021400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:4020600-4021400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:4020600-4021800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:4020600-4022800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:4020800-4021200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr6:4020800-4021200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:4020800-4021200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr6:4020800-4021200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:4020800-4021200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr6:4020800-4021200	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr6:4020800-4021200	Flanking Active TSS	Colon Smooth Muscle	Colon
32	chr6:4020800-4021200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr6:4020800-4021200	Flanking Active TSS	Fetal Brain Male	brain
34	chr6:4020800-4021200	Flanking Active TSS	Fetal Brain Female	brain
35	chr6:4020800-4021200	Flanking Active TSS	Fetal Heart	heart
36	chr6:4020800-4021200	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr6:4020800-4021200	Flanking Active TSS	Fetal Lung	lung
38	chr6:4020800-4021200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr6:4020800-4021200	Flanking Active TSS	HSMMtube	muscle
40	chr6:4020800-4021400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:4020800-4021400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr6:4020800-4021400	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr6:4020800-4021400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr6:4020800-4021400	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr6:4020800-4021400	Flanking Active TSS	Liver	Liver
46	chr6:4020800-4021400	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr6:4020800-4021400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr6:4020800-4021400	Flanking Active TSS	HUVEC	blood vessel
49	chr6:4020800-4021400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr6:4020800-4022400	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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