Variant report

Variant	rs531404657
Chromosome Location	chr1:9996576-9996577
allele	C/T
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	chr1:9996562-9996729	MCF10A-Er-Src	breast:	n/a	n/a
2	JUN	chr1:9996498-9996685	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9598357..9600468-chr1:9996244..9998759,2	K562	blood:
2	chr1:9992820..9997928-chr1:9999758..10004449,8	K562	blood:

Variant related genes	Relation type
LZIC	TF binding region
ENSG00000173614	Chromatin interaction
ENSG00000228150	Chromatin interaction
ENSG00000171612	Chromatin interaction
ENSG00000162441	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1012301	chr1:9963962-10118393	Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv534853	chr1:9963962-10118393	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv534854	chr1:9964726-10001012	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1001742	chr1:9971776-10116767	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv1005461	chr1:9972921-10038862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
11	nsv534855	chr1:9972921-10038862	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
12	nsv947175	chr1:9996275-10009860	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9971400-10002000	Weak transcription	Small Intestine	intestine
2	chr1:9972600-10002200	Weak transcription	Right Atrium	heart
3	chr1:9975200-10002600	Weak transcription	Stomach Mucosa	stomach
4	chr1:9983200-10002200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:9983200-10002400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:9983600-10002400	Weak transcription	Fetal Heart	heart
7	chr1:9983600-10002400	Weak transcription	Right Ventricle	heart
8	chr1:9984000-10002200	Weak transcription	HMEC	breast
9	chr1:9984600-10002600	Weak transcription	Esophagus	oesophagus
10	chr1:9986600-9996800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:9986800-10000200	Strong transcription	Primary T cells from cord blood	blood
12	chr1:9987000-9996800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:9987000-10002200	Weak transcription	Fetal Brain Male	brain
14	chr1:9987200-9997200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:9987200-10002200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:9987400-10000400	Strong transcription	Fetal Stomach	stomach
17	chr1:9987400-10002000	Weak transcription	Colonic Mucosa	Colon
18	chr1:9987600-9999400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:9987800-9996600	Strong transcription	Adipose Nuclei	Adipose
20	chr1:9987800-9996600	Strong transcription	Liver	Liver
21	chr1:9987800-10002200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:9988000-9996600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:9988000-9998600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:9988000-10002000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:9988200-9996600	Strong transcription	Stomach Smooth Muscle	stomach
26	chr1:9988200-10002400	Weak transcription	NHLF	lung
27	chr1:9988400-9996600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:9988400-9996600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:9988400-9996800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr1:9988400-9997000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:9988400-9997000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr1:9988400-10000200	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:9988400-10001600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:9988400-10002000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:9988400-10002200	Weak transcription	HUVEC	blood vessel
36	chr1:9988600-9996600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:9988600-9996600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:9988600-9996600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr1:9988600-9996800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:9988600-9996800	Strong transcription	Fetal Thymus	thymus
41	chr1:9988600-9996800	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:9988600-9996800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:9988600-9997200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:9988600-9997200	Strong transcription	Thymus	Thymus
45	chr1:9989000-9996800	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:9989000-9996800	Strong transcription	Placenta	Placenta
47	chr1:9989000-9998200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:9989200-9998000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr1:9989400-9996600	Strong transcription	Left Ventricle	heart
50	chr1:9989600-10002200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links