Variant report

Variant	rs7678336
Chromosome Location	chr4:3169522-3169523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3168255..3170056-chr4:3176089..3177701,2	K562	blood:
2	chr4:3168550..3170092-chr4:3179399..3181924,2	MCF-7	breast:
3	chr4:3158228..3160226-chr4:3168237..3170357,2	K562	blood:
4	chr4:3169372..3171758-chr4:3194914..3197788,2	K562	blood:

Variant related genes	Relation type
ENSG00000197386	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10006129	1.00[ASN][1000 genomes]
rs10009935	1.00[ASN][1000 genomes]
rs10016755	0.92[YRI][hapmap]
rs1419036	1.00[ASN][1000 genomes]
rs16843857	1.00[YRI][hapmap]
rs16843866	0.92[YRI][hapmap]
rs16843869	0.92[YRI][hapmap]
rs16843871	0.93[MKK][hapmap];0.92[YRI][hapmap]
rs16843939	0.81[AFR][1000 genomes]
rs16843945	0.84[AFR][1000 genomes]
rs28377140	1.00[ASN][1000 genomes]
rs28393280	1.00[ASN][1000 genomes]
rs28394705	1.00[ASN][1000 genomes]
rs28398130	1.00[ASN][1000 genomes]
rs28468636	1.00[ASN][1000 genomes]
rs28485764	1.00[ASN][1000 genomes]
rs28564368	1.00[ASN][1000 genomes]
rs28583447	1.00[ASN][1000 genomes]
rs28584232	1.00[ASN][1000 genomes]
rs28616835	1.00[ASN][1000 genomes]
rs28629394	1.00[ASN][1000 genomes]
rs28682489	1.00[ASN][1000 genomes]
rs28696693	1.00[ASN][1000 genomes]
rs28714390	1.00[ASN][1000 genomes]
rs28755900	1.00[ASN][1000 genomes]
rs3025831	0.84[AFR][1000 genomes]
rs3025837	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3025838	0.82[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs3025852	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs3025853	0.93[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs362316	0.82[ASW][hapmap]
rs362322	0.82[AFR][1000 genomes]
rs363140	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs363153	1.00[YRI][hapmap]
rs4346595	1.00[ASN][1000 genomes]
rs56134819	0.84[AFR][1000 genomes]
rs56136832	1.00[ASN][1000 genomes]
rs60215756	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6813198	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6813223	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6813958	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6830019	1.00[ASN][1000 genomes]
rs6835897	1.00[ASN][1000 genomes]
rs6856403	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73792352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7436457	1.00[ASN][1000 genomes]
rs7664480	1.00[ASN][1000 genomes]
rs7667172	0.94[AFR][1000 genomes]
rs7693317	0.83[YRI][hapmap]
rs7698150	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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 miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv461164	chr4:3149016-3215835	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv593439	chr4:3149016-3215835	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3114600-3292400	Weak transcription	Right Atrium	heart
2	chr4:3145800-3239200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:3150000-3174400	Weak transcription	HMEC	breast
4	chr4:3156800-3174000	Weak transcription	A549	lung
5	chr4:3158600-3173600	Weak transcription	Fetal Kidney	kidney
6	chr4:3159200-3169800	Weak transcription	Stomach Mucosa	stomach
7	chr4:3159400-3173600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:3161000-3169600	Weak transcription	K562	blood
9	chr4:3161200-3169600	Weak transcription	NHDF-Ad	bronchial
10	chr4:3162000-3173800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:3162400-3169800	Weak transcription	HSMMtube	muscle
12	chr4:3162400-3173600	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:3162400-3174000	Weak transcription	Brain Substantia Nigra	brain
14	chr4:3162400-3174000	Weak transcription	Ovary	ovary
15	chr4:3162400-3174200	Weak transcription	NHLF	lung
16	chr4:3162400-3174600	Weak transcription	HUVEC	blood vessel
17	chr4:3162400-3175000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:3162600-3169600	Weak transcription	NH-A	brain
19	chr4:3162600-3169600	Weak transcription	NHEK	skin
20	chr4:3162600-3169800	Weak transcription	Right Ventricle	heart
21	chr4:3162600-3174000	Weak transcription	Colonic Mucosa	Colon
22	chr4:3162600-3174000	Weak transcription	Hela-S3	cervix
23	chr4:3162600-3174000	Weak transcription	HSMM	muscle
24	chr4:3162600-3182200	Weak transcription	Small Intestine	intestine
25	chr4:3162800-3169600	Weak transcription	GM12878-XiMat	blood
26	chr4:3162800-3169600	Weak transcription	Osteobl	bone
27	chr4:3162800-3174000	Weak transcription	Aorta	Aorta
28	chr4:3163000-3174000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:3163000-3182000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr4:3163400-3173600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:3163400-3174200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:3163600-3169600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:3163600-3169800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:3164200-3169600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:3164200-3174400	Weak transcription	Fetal Brain Male	brain
36	chr4:3164400-3173000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:3164600-3173600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:3164600-3174800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr4:3164800-3171800	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:3164800-3172600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr4:3164800-3174000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:3164800-3174200	Weak transcription	Psoas Muscle	Psoas
43	chr4:3165000-3169800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr4:3166200-3177400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:3166400-3170400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:3166800-3170400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr4:3167200-3170600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr4:3167800-3169600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr4:3167800-3170600	Enhancers	Fetal Heart	heart
50	chr4:3167800-3170800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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