Variant report

Variant	rs149570648
Chromosome Location	chr6:44096722-44096723
allele	-/CC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr6:44095956-44096801	K562	blood:	n/a	n/a
2	MAX	chr6:44094555-44096822	HepG2	liver:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
3	MXI1	chr6:44093307-44096849	SK-N-SH	brain:	n/a	chr6:44095719-44095728
4	CTCF	chr6:44096600-44096750	AG09309	skin:	n/a	n/a
5	ZNF143	chr6:44096638-44096864	K562	blood:	n/a	n/a
6	NR2F2	chr6:44095755-44096770	K562	blood:	n/a	n/a
7	MAZ	chr6:44094009-44096852	IMR90	lung:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
8	RCOR1	chr6:44096545-44096807	K562	blood:	n/a	n/a
9	MXI1	chr6:44093962-44096916	IMR90	lung:	n/a	chr6:44095719-44095728
10	MYC	chr6:44096465-44096736	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr6:44096535-44096861	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:44096250-44096818	GM12878	blood:	n/a	n/a
13	CBX3	chr6:44096541-44096934	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:43740232..43742498-chr6:44094487..44097613,3	K562	blood:
2	chr6:44094685..44097058-chr6:44213813..44216236,2	MCF-7	breast:
3	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
4	chr6:44092682..44101478-chr6:44189085..44198306,11	K562	blood:
5	chr6:44094061..44096796-chr6:44223845..44226294,3	K562	blood:
6	chr6:44093355..44096767-chr6:44213001..44216421,7	K562	blood:
7	chr6:44042031..44044413-chr6:44095279..44097168,2	K562	blood:
8	chr6:44096398..44099100-chr6:44201010..44203822,2	K562	blood:
9	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
10	chr6:44095005..44097134-chr6:44184170..44186416,2	K562	blood:
11	chr6:43595621..43598855-chr6:44092842..44097752,6	K562	blood:

No data

Variant related genes	Relation type
MRPL14	TF binding region
ENSG00000112759	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000262179	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000172432	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3325720	chr6:44094199-44096747	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	esv3347288	chr6:44094599-44097147	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	16 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	chr6:44094000-44096800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr6:44094000-44096800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:44094200-44096800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:44094200-44096800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr6:44094200-44096800	Active TSS	Fetal Kidney	kidney
6	chr6:44094200-44096800	Active TSS	HSMM	muscle
7	chr6:44094400-44096800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:44094400-44096800	Active TSS	NHLF	lung
9	chr6:44095600-44096800	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr6:44095800-44096800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr6:44095800-44096800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr6:44095800-44096800	Flanking Active TSS	Colonic Mucosa	Colon
13	chr6:44096000-44096800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:44096000-44096800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:44096000-44096800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:44096000-44096800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr6:44096000-44096800	Flanking Active TSS	Liver	Liver
18	chr6:44096000-44096800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:44096000-44096800	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr6:44096000-44096800	Enhancers	Fetal Heart	heart
21	chr6:44096000-44096800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr6:44096000-44096800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr6:44096000-44097400	Enhancers	Fetal Brain Male	brain
24	chr6:44096200-44096800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:44096200-44096800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:44096200-44096800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:44096200-44096800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:44096200-44096800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:44096200-44096800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:44096200-44096800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:44096200-44096800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:44096200-44096800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:44096200-44096800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:44096200-44096800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:44096200-44096800	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr6:44096200-44096800	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr6:44096200-44096800	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr6:44096200-44096800	Flanking Active TSS	Fetal Brain Female	brain
39	chr6:44096200-44096800	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr6:44096200-44096800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr6:44096200-44096800	Flanking Active TSS	Stomach Mucosa	stomach
42	chr6:44096200-44096800	Flanking Active TSS	GM12878-XiMat	blood
43	chr6:44096200-44096800	Flanking Active TSS	HMEC	breast
44	chr6:44096200-44096800	Flanking Active TSS	K562	blood
45	chr6:44096200-44096800	Flanking Active TSS	NHEK	skin
46	chr6:44096200-44097000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr6:44096400-44096800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr6:44096400-44096800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:44096400-44096800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr6:44096400-44096800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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