Variant report

Variant	rs836514
Chromosome Location	chr7:6461348-6461349
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	POLR2A	chr7:6461226-6462504	HL-60	blood:	n/a	n/a
2	POLR2A	chr7:6461216-6462754	SK-N-MC	brain:	n/a	n/a
3	CBX3	chr7:6461097-6461508	K562	blood:	n/a	n/a
4	POLR2A	chr7:6461240-6461422	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr7:6461337-6461540	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr7:6461347-6461379	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:6461232-6461384	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:6461237-6461550	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6454958..6457155-chr7:6459947..6462538,2	MCF-7	breast:
2	chr7:6459143..6461711-chr7:6462987..6466871,3	K562	blood:
3	chr7:6459412..6462059-chr7:6463875..6466225,2	K562	blood:

Variant related genes	Relation type
DAGLB	TF binding region
ENSG00000164535	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1075434	0.86[EUR][1000 genomes]
rs34215517	0.87[EUR][1000 genomes]
rs73341292	0.89[EUR][1000 genomes]
rs73342949	0.93[EUR][1000 genomes]
rs73342964	0.86[EUR][1000 genomes]
rs73342968	0.85[EUR][1000 genomes]
rs7778220	0.92[EUR][1000 genomes]
rs7806655	0.89[EUR][1000 genomes]
rs836517	0.93[ASN][1000 genomes]
rs836525	0.93[ASN][1000 genomes]
rs836528	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs836535	0.93[ASN][1000 genomes]
rs836542	0.93[ASN][1000 genomes]
rs836543	0.90[ASN][1000 genomes]
rs836544	0.93[ASN][1000 genomes]
rs866279	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv606000	chr7:6446027-6477002	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv887428	chr7:6449496-6463905	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3331508	chr7:6460277-6462225	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	1 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	chr7:6426000-6475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:6437600-6470400	Strong transcription	Fetal Brain Female	brain
3	chr7:6438000-6462400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:6438600-6475600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:6438800-6462800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:6439600-6472400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:6439800-6474600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:6439800-6477400	Strong transcription	Fetal Intestine Small	intestine
10	chr7:6440200-6461400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:6440200-6464600	Weak transcription	Right Atrium	heart
12	chr7:6441200-6471400	Strong transcription	Brain Germinal Matrix	brain
13	chr7:6443800-6465200	Weak transcription	Fetal Heart	heart
14	chr7:6443800-6475000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:6444000-6474600	Strong transcription	Lung	lung
16	chr7:6448600-6470000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:6450400-6475000	Strong transcription	Fetal Stomach	stomach
18	chr7:6452600-6461400	Weak transcription	K562	blood
19	chr7:6452800-6475000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:6453000-6463600	Weak transcription	GM12878-XiMat	blood
21	chr7:6453000-6486800	Weak transcription	Small Intestine	intestine
22	chr7:6453600-6483200	Weak transcription	Fetal Kidney	kidney
23	chr7:6454600-6463600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:6456600-6464400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:6456600-6475200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:6456800-6464000	Weak transcription	Stomach Mucosa	stomach
27	chr7:6456800-6486800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr7:6457000-6464000	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:6457200-6461400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:6457200-6464000	Weak transcription	Primary B cells from cord blood	blood
31	chr7:6457400-6461600	Weak transcription	Brain Substantia Nigra	brain
32	chr7:6457400-6462800	Strong transcription	Placenta	Placenta
33	chr7:6457400-6463400	Weak transcription	HepG2	liver
34	chr7:6457400-6463600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:6457400-6464200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:6457600-6461400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:6457800-6474800	Strong transcription	Thymus	Thymus
38	chr7:6458800-6461600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:6458800-6461600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:6458800-6462400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:6458800-6462400	Strong transcription	Pancreas	Pancrea
42	chr7:6458800-6467600	Strong transcription	Ovary	ovary
43	chr7:6458800-6469200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:6458800-6474800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:6458800-6474800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:6458800-6474800	Strong transcription	Fetal Intestine Large	intestine
47	chr7:6459000-6461400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:6459000-6462200	Strong transcription	Brain Cingulate Gyrus	brain
49	chr7:6459000-6462200	Strong transcription	Colonic Mucosa	Colon
50	chr7:6459000-6462400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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