Variant report

Variant	rs527729531
Chromosome Location	chr3:121261242-121261243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:121249276..121252211-chr3:121260575..121262874,2	MCF-7	breast:
2	chr3:121259538..121263018-chr3:121263022..121266683,5	K562	blood:
3	chr3:121257218..121258726-chr3:121258912..121261843,2	K562	blood:

Variant related genes	Relation type
ENSG00000051341	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	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
3	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
4	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
5	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
6	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
7	nsv877381	chr3:121192350-121343500	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic 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	15 gene(s)	inside rSNPs	diseases
9	nsv999349	chr3:121253990-121360206	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3445327	chr3:121260311-121288302	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:121178200-121263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:121200600-121264000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:121202400-121263200	Weak transcription	NHLF	lung
5	chr3:121202400-121263800	Weak transcription	HSMM	muscle
6	chr3:121209400-121263600	Weak transcription	NHDF-Ad	bronchial
7	chr3:121229600-121263000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:121232200-121263800	Weak transcription	Fetal Heart	heart
9	chr3:121233400-121263000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:121234000-121264000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:121234200-121263600	Weak transcription	Osteobl	bone
12	chr3:121234200-121264000	Weak transcription	Fetal Intestine Large	intestine
13	chr3:121234400-121263200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:121234600-121263600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:121235000-121263800	Weak transcription	Primary B cells from cord blood	blood
16	chr3:121235000-121264000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:121235400-121263600	Weak transcription	Brain Germinal Matrix	brain
18	chr3:121235600-121262600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:121235600-121263600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:121235600-121263600	Weak transcription	NH-A	brain
21	chr3:121235800-121263400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:121236000-121262600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:121236600-121263400	Weak transcription	Fetal Intestine Small	intestine
24	chr3:121236600-121264000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:121236600-121264200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:121237400-121264000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr3:121237600-121263600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr3:121237600-121264000	Weak transcription	Fetal Lung	lung
29	chr3:121239200-121263200	Weak transcription	NHEK	skin
30	chr3:121239600-121264000	Weak transcription	Fetal Stomach	stomach
31	chr3:121241800-121263600	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:121243000-121262800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:121243000-121263000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr3:121244200-121262800	Strong transcription	Fetal Thymus	thymus
35	chr3:121244200-121263400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:121247800-121261800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr3:121250000-121264000	Weak transcription	Thymus	Thymus
38	chr3:121251600-121263800	Weak transcription	Fetal Kidney	kidney
39	chr3:121252000-121264000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:121253800-121262600	Strong transcription	A549	lung
41	chr3:121254600-121264200	Weak transcription	Fetal Brain Male	brain
42	chr3:121254800-121263600	Weak transcription	HepG2	liver
43	chr3:121255400-121263200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:121256400-121263600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr3:121257400-121263600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:121258000-121263000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:121258200-121263600	Weak transcription	HUVEC	blood vessel
48	chr3:121258200-121263800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr3:121258400-121263600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:121258600-121263200	Weak transcription	Hela-S3	cervix

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