Variant report

Variant	rs3734704
Chromosome Location	chr6:44201947-44201948
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44064262..44065098-chr6:44201682..44202313,3	MCF-7	breast:
2	chr6:44193349..44195595-chr6:44198490..44203873,4	MCF-7	breast:
3	chr6:44064173..44065096-chr6:44201605..44202510,3	K562	blood:
4	chr6:44118934..44120172-chr6:44201616..44202538,11	MCF-7	breast:
5	chr6:44188965..44189915-chr6:44201606..44202486,3	MCF-7	breast:
6	chr6:44139881..44141095-chr6:44201450..44203123,17	MCF-7	breast:
7	chr6:44196319..44199893-chr6:44200846..44202701,4	MCF-7	breast:
8	chr6:44201525..44202167-chr6:44213593..44214155,2	K562	blood:
9	chr6:44137717..44140173-chr6:44201270..44205583,3	MCF-7	breast:
10	chr6:44140559..44141134-chr6:44201407..44202489,4	MCF-7	breast:
11	chr6:44141577..44142131-chr6:44201600..44202532,2	K562	blood:
12	chr6:44066164..44066852-chr6:44201933..44202598,2	MCF-7	breast:
13	chr6:44096398..44099100-chr6:44201010..44203822,2	K562	blood:
14	chr6:44140158..44141271-chr6:44201179..44202684,11	K562	blood:
15	chr6:44140799..44143611-chr6:44200264..44202558,3	MCF-7	breast:
16	chr6:44119282..44120002-chr6:44201581..44202498,4	MCF-7	breast:
17	chr6:44184911..44192138-chr6:44201380..44207306,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000112759	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1128930	0.80[ASN][1000 genomes]
rs2070695	0.89[ASN][1000 genomes]
rs2894567	1.00[ASN][1000 genomes]
rs495061	0.99[ASN][1000 genomes]
rs666462	0.99[ASN][1000 genomes]
rs6929249	0.88[AFR][1000 genomes]
rs760370	0.83[ASN][1000 genomes]
rs7748377	0.88[AFR][1000 genomes]
rs9367189	0.96[ASN][1000 genomes]
rs9381298	0.83[ASN][1000 genomes]
rs9381299	0.92[ASN][1000 genomes]
rs9394994	0.83[ASN][1000 genomes]
rs9394995	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv981326	chr6:44201100-44205684	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44191600-44205000	Weak transcription	Small Intestine	intestine
2	chr6:44192200-44204800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:44192400-44205000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:44193200-44204800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:44194400-44202000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:44194600-44202000	Weak transcription	Primary B cells from cord blood	blood
7	chr6:44194800-44202400	Weak transcription	Fetal Kidney	kidney
8	chr6:44195000-44202200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:44195000-44202800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:44195200-44202200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:44195200-44202600	Strong transcription	Dnd41	blood
12	chr6:44195400-44202200	Weak transcription	Brain Germinal Matrix	brain
13	chr6:44195600-44202000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:44195600-44202000	Genic enhancers	Adipose Nuclei	Adipose
15	chr6:44195600-44202200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:44195600-44202600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:44195600-44203000	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr6:44199400-44202000	Weak transcription	Ovary	ovary
19	chr6:44199600-44202600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:44199600-44203000	Genic enhancers	Fetal Thymus	thymus
21	chr6:44199800-44205200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr6:44200000-44204800	Enhancers	Liver	Liver
23	chr6:44200200-44203200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:44200400-44202600	Enhancers	Psoas Muscle	Psoas
25	chr6:44200400-44203400	Genic enhancers	Fetal Muscle Leg	muscle
26	chr6:44200400-44204200	Genic enhancers	Fetal Stomach	stomach
27	chr6:44200600-44202200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:44200600-44202200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:44200600-44202600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:44200600-44203400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr6:44200600-44203800	Genic enhancers	HUVEC	blood vessel
32	chr6:44200600-44204200	Enhancers	Brain Hippocampus Middle	brain
33	chr6:44200800-44202000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:44200800-44202200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:44200800-44202600	Genic enhancers	Thymus	Thymus
36	chr6:44200800-44203000	Enhancers	Primary T cells from cord blood	blood
37	chr6:44200800-44203200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:44200800-44203600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:44200800-44203600	Enhancers	Brain Angular Gyrus	brain
40	chr6:44200800-44203600	Enhancers	Brain Anterior Caudate	brain
41	chr6:44200800-44203600	Enhancers	Brain Cingulate Gyrus	brain
42	chr6:44201000-44202200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:44201000-44202800	Enhancers	HSMM	muscle
44	chr6:44201000-44203000	Enhancers	Duodenum Mucosa	Duodenum
45	chr6:44201000-44203200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:44201000-44203600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr6:44201000-44203600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:44201000-44205000	Enhancers	HMEC	breast
49	chr6:44201200-44202000	Genic enhancers	Right Atrium	heart
50	chr6:44201200-44202200	Weak transcription	Esophagus	oesophagus

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