Variant report

Variant	rs3729551
Chromosome Location	chr1:226828121-226828122
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226827872..226829435-chr1:227013407..227016393,2	MCF-7	breast:
2	chr1:226827940..226829963-chr1:226831824..226834705,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2236604	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs3738723	0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs3754380	0.92[CEU][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3768371	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv873235	chr1:226819073-226851963	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv516277	chr1:226825341-226833304	Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226814200-226837600	Weak transcription	HUVEC	blood vessel
2	chr1:226814800-226830400	Strong transcription	Thymus	Thymus
3	chr1:226814800-226834800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:226814800-226840600	Weak transcription	Small Intestine	intestine
5	chr1:226816800-226837000	Weak transcription	Fetal Brain Male	brain
6	chr1:226817000-226837000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:226817200-226830600	Strong transcription	Fetal Intestine Small	intestine
8	chr1:226819200-226830200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:226820400-226828400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:226820400-226840800	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr1:226820800-226831000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:226822000-226828200	Weak transcription	Brain Germinal Matrix	brain
13	chr1:226822000-226833400	Weak transcription	Fetal Heart	heart
14	chr1:226823200-226830000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:226823200-226834800	Weak transcription	Fetal Kidney	kidney
16	chr1:226823200-226841400	Weak transcription	NHDF-Ad	bronchial
17	chr1:226823400-226828200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:226823400-226828400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
19	chr1:226823400-226828600	Strong transcription	Fetal Intestine Large	intestine
20	chr1:226823400-226834400	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr1:226823600-226830000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:226823600-226830600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:226823600-226831000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:226823800-226829800	Strong transcription	Primary hematopoietic stem cells	blood
25	chr1:226823800-226829800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:226823800-226830400	Weak transcription	HMEC	breast
27	chr1:226823800-226830600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:226823800-226830600	Strong transcription	Esophagus	oesophagus
29	chr1:226823800-226830600	Weak transcription	Stomach Mucosa	stomach
30	chr1:226823800-226830600	Weak transcription	NHEK	skin
31	chr1:226823800-226837400	Strong transcription	Dnd41	blood
32	chr1:226824000-226829600	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:226824000-226834800	Genic enhancers	Fetal Muscle Leg	muscle
34	chr1:226824200-226828400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:226824200-226829600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:226824200-226830000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr1:226824200-226830800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:226824200-226830800	Strong transcription	Gastric	stomach
39	chr1:226824400-226830400	Strong transcription	Fetal Thymus	thymus
40	chr1:226824600-226828800	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr1:226824800-226830400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:226824800-226836800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:226825000-226830000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:226825000-226834200	Weak transcription	Liver	Liver
45	chr1:226825200-226829200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:226825200-226830400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:226825200-226830600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:226825200-226830800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:226825400-226828400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:226825400-226830400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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