Variant report

Variant	rs36025004
Chromosome Location	chr6:44213050-44213051
allele	C/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	EP300	chr6:44212956-44216963	SK-N-SH	brain:	n/a	chr6:44215253-44215260 chr6:44215637-44215646 chr6:44215594-44215610 chr6:44214210-44214219 chr6:44216157-44216171
2	FOXA1	chr6:44212773-44213271	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:44212831-44226077	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:44212847-44213095	K562	blood:	n/a	n/a
5	POLR2A	chr6:44212840-44213127	HepG2	liver:	n/a	n/a
6	FOXA1	chr6:44212921-44213110	T-47D	breast:	n/a	n/a
7	FOXA1	chr6:44212759-44213239	HepG2	liver:	n/a	n/a
8	MXI1	chr6:44212781-44216473	SK-N-SH	brain:	n/a	n/a
9	ARID3A	chr6:44212839-44215069	HepG2	liver:	n/a	n/a
10	MXI1	chr6:44212913-44215849	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:44212968-44226044	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:44212567-44216341	HepG2	liver:	n/a	n/a
13	TBP	chr6:44212876-44213265	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:44212789-44215262	HepG2	liver:	n/a	n/a
15	CREB1	chr6:44212750-44215994	HepG2	liver:	n/a	n/a
16	FOXA1	chr6:44212686-44213286	HepG2	liver:	n/a	n/a
17	HEY1	chr6:44212649-44216410	HepG2	liver:	n/a	chr6:44214705-44214714
18	MYC	chr6:44213049-44213139	HepG2	liver:	n/a	n/a
19	ELF1	chr6:44212812-44213127	HepG2	liver:	n/a	chr6:44213011-44213022
20	MYBL2	chr6:44212742-44215838	HepG2	liver:	n/a	n/a
21	MBD4	chr6:44212643-44216104	HepG2	liver:	n/a	n/a
22	FOXA2	chr6:44212823-44213143	HepG2	liver:	n/a	n/a
23	MAX	chr6:44212767-44215916	HepG2	liver:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223
24	MAX	chr6:44212728-44215955	HepG2	liver:	n/a	chr6:44215641-44215651 chr6:44215205-44215214 chr6:44215206-44215213 chr6:44214158-44214168 chr6:44214682-44214692 chr6:44215207-44215223

No.	Distal block	Cell Line	Cell type
1	chr6:43596586..43599214-chr6:44212975..44217729,5	K562	blood:
2	chr6:44093355..44096767-chr6:44213001..44216421,7	K562	blood:
3	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
4	chr6:44133200..44145960-chr6:44211718..44220192,28	K562	blood:
5	chr6:44093355..44100261-chr6:44212966..44217093,13	K562	blood:
6	chr6:44187521..44192952-chr6:44212221..44217106,13	MCF-7	breast:

Variant related genes	Relation type
HSP90AB1	TF binding region
ENSG00000137225	Chromatin interaction
ENSG00000112759	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000180992	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs34072228	1.00[AMR][1000 genomes]
rs34538146	0.91[AFR][1000 genomes]
rs34984888	1.00[AMR][1000 genomes]
rs35151748	1.00[AMR][1000 genomes]
rs35163667	1.00[AMR][1000 genomes]
rs35788918	1.00[AMR][1000 genomes]
rs35887553	1.00[AMR][1000 genomes]
rs35936488	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv885852	chr6:44185901-44222718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS 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 miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44205800-44213200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:44206000-44213200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:44206000-44213400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:44206000-44213400	Weak transcription	Right Atrium	heart
5	chr6:44206200-44213200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr6:44206200-44213200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr6:44206200-44213400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:44206200-44213400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:44206200-44213600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:44206400-44213200	Weak transcription	Adipose Nuclei	Adipose
11	chr6:44206400-44213200	Weak transcription	Stomach Mucosa	stomach
12	chr6:44206400-44213200	Weak transcription	HUVEC	blood vessel
13	chr6:44206400-44213200	Weak transcription	Osteobl	bone
14	chr6:44206600-44213200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:44206600-44213200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:44206600-44213400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:44206600-44213400	Weak transcription	GM12878-XiMat	blood
18	chr6:44206800-44213200	Weak transcription	Brain Anterior Caudate	brain
19	chr6:44206800-44213400	Weak transcription	Fetal Intestine Large	intestine
20	chr6:44206800-44213400	Weak transcription	Thymus	Thymus
21	chr6:44207000-44213200	Weak transcription	A549	lung
22	chr6:44207000-44213400	Weak transcription	Hela-S3	cervix
23	chr6:44207400-44213400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:44207400-44213400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:44207400-44213400	Weak transcription	NHEK	skin
26	chr6:44209800-44213400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:44212200-44213200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:44212600-44213400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:44212600-44213400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:44212800-44213200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:44212800-44213200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr6:44212800-44213200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr6:44212800-44213200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:44212800-44213200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr6:44212800-44213200	Active TSS	Stomach Smooth Muscle	stomach
36	chr6:44212800-44213400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:44212800-44213400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:44212800-44213400	Enhancers	Brain Germinal Matrix	brain
39	chr6:44212800-44213400	Enhancers	Fetal Heart	heart
40	chr6:44212800-44213400	Enhancers	Right Ventricle	heart
41	chr6:44212800-44213600	Enhancers	Fetal Thymus	thymus
42	chr6:44213000-44213200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:44213000-44213200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr6:44213000-44213200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:44213000-44213200	Enhancers	Brain Angular Gyrus	brain
46	chr6:44213000-44213200	Enhancers	Brain Cingulate Gyrus	brain
47	chr6:44213000-44213200	Enhancers	Brain Hippocampus Middle	brain
48	chr6:44213000-44213200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr6:44213000-44213200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:44213000-44213200	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links