Variant report

Variant	rs377469235
Chromosome Location	chr6:44096595-44096596
allele	A/G
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	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	MAX	chr6:44095691-44096679	K562	blood:	n/a	chr6:44096314-44096324
5	NR2F2	chr6:44095755-44096770	K562	blood:	n/a	n/a
6	POLR2A	chr6:44096407-44096608	MCF-7	breast:	n/a	n/a
7	MAZ	chr6:44094009-44096852	IMR90	lung:	n/a	chr6:44095138-44095147 chr6:44096314-44096324
8	HMGN3	chr6:44094506-44096613	K562	blood:	n/a	n/a
9	RCOR1	chr6:44096545-44096807	K562	blood:	n/a	n/a
10	POLR2A	chr6:44096436-44096666	MCF-7	breast:	n/a	n/a
11	ZBTB7A	chr6:44094357-44096601	ECC-1	luminal epithelium:	n/a	chr6:44095423-44095432 chr6:44096163-44096172 chr6:44094828-44094839
12	MXI1	chr6:44093962-44096916	IMR90	lung:	n/a	chr6:44095719-44095728
13	MYC	chr6:44096465-44096736	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr6:44096535-44096861	GM12878	blood:	n/a	n/a
15	CTCF	chr6:44096520-44096670	SAEC	small airway:	n/a	chr6:44096586-44096595 chr6:44096585-44096598
16	POLR2A	chr6:44096250-44096818	GM12878	blood:	n/a	n/a
17	CBX3	chr6:44096541-44096934	K562	blood:	n/a	n/a
18	ZBTB7A	chr6:44094463-44096612	K562	blood:	n/a	chr6:44095423-44095432 chr6:44096163-44096172 chr6:44094828-44094839
19	ZBTB7A	chr6:44094499-44096715	K562	blood:	n/a	chr6:44095423-44095432 chr6:44096163-44096172 chr6:44094828-44094839

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:

Variant related genes	Relation type
MRPL14	TF binding region
ENSG00000096384	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000262179	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000237686	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:125 , 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	chr6:44094400-44096600	Active TSS	HSMMtube	muscle
8	chr6:44094400-44096800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr6:44094400-44096800	Active TSS	NHLF	lung
10	chr6:44095600-44096600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr6:44095600-44096600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:44095600-44096800	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr6:44095800-44096600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr6:44095800-44096600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr6:44095800-44096600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr6:44095800-44096600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
17	chr6:44095800-44096600	Flanking Active TSS	Dnd41	blood
18	chr6:44095800-44096800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr6:44095800-44096800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr6:44095800-44096800	Flanking Active TSS	Colonic Mucosa	Colon
21	chr6:44096000-44096600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:44096000-44096600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:44096000-44096600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr6:44096000-44096600	Flanking Active TSS	Fetal Lung	lung
25	chr6:44096000-44096600	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr6:44096000-44096600	Flanking Active TSS	Ovary	ovary
27	chr6:44096000-44096600	Flanking Active TSS	Pancreas	Pancrea
28	chr6:44096000-44096600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr6:44096000-44096600	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr6:44096000-44096600	Flanking Bivalent TSS/Enh	Thymus	Thymus
31	chr6:44096000-44096600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr6:44096000-44096600	Flanking Active TSS	NH-A	brain
33	chr6:44096000-44096800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:44096000-44096800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:44096000-44096800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr6:44096000-44096800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr6:44096000-44096800	Flanking Active TSS	Liver	Liver
38	chr6:44096000-44096800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:44096000-44096800	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr6:44096000-44096800	Enhancers	Fetal Heart	heart
41	chr6:44096000-44096800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr6:44096000-44096800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr6:44096000-44097400	Enhancers	Fetal Brain Male	brain
44	chr6:44096200-44096600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr6:44096200-44096600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr6:44096200-44096600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:44096200-44096600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:44096200-44096600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:44096200-44096600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:44096200-44096600	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links