Variant report

Variant	rs3218635
Chromosome Location	chr3:121155119-121155120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121152541..121155166-chr3:121158856..121160501,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2306211	1.00[MEX][hapmap]
rs3218639	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs3218640	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs3218642	1.00[LWK][hapmap];1.00[MEX][hapmap]
rs3772119	1.00[LWK][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv521397	chr3:120970900-121192350	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv829702	chr3:121045793-121227975	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv591399	chr3:121046468-121160369	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv591401	chr3:121094592-121160369	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121139200-121186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:121140600-121170800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:121141200-121186000	Weak transcription	NHEK	skin
4	chr3:121142200-121161600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:121143600-121160000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr3:121145200-121160200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:121145400-121160600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:121145800-121155800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:121145800-121161200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:121146000-121177400	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:121146000-121185800	Weak transcription	Fetal Stomach	stomach
12	chr3:121146200-121185600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:121146400-121185800	Weak transcription	Fetal Intestine Large	intestine
14	chr3:121148000-121170800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:121148400-121199600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:121148600-121155800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:121148600-121159600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:121148800-121155600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:121149200-121160200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:121149400-121181000	Weak transcription	HMEC	breast
21	chr3:121149400-121196600	Weak transcription	NH-A	brain
22	chr3:121149400-121199600	Weak transcription	Fetal Lung	lung
23	chr3:121149800-121177400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:121149800-121177400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:121150000-121166200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:121151000-121156400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:121151200-121185800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:121151200-121193400	Weak transcription	HSMM	muscle
29	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:121151400-121185600	Weak transcription	HUVEC	blood vessel
31	chr3:121151600-121155800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr3:121151600-121166600	Weak transcription	Primary B cells from cord blood	blood
33	chr3:121151800-121157400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:121151800-121158200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:121151800-121162000	Weak transcription	NHLF	lung
36	chr3:121151800-121166400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:121151800-121171000	Weak transcription	HepG2	liver
38	chr3:121151800-121177600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:121152000-121157200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr3:121152400-121155200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:121152600-121155200	Strong transcription	Hela-S3	cervix
42	chr3:121152600-121177400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:121153000-121155200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:121153000-121156200	Weak transcription	GM12878-XiMat	blood
45	chr3:121153200-121157000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr3:121153200-121167400	Weak transcription	A549	lung
47	chr3:121153200-121170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:121153200-121177600	Weak transcription	K562	blood
49	chr3:121153800-121160800	Strong transcription	Dnd41	blood
50	chr3:121153800-121177400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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