Variant report

Variant	rs571298843
Chromosome Location	chr3:67657703-67657704
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	chr15:99790865..99791637-chr3:67657486..67657986,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000168904	Chromatin interaction
ENSG00000103852	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
2	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590561	chr3:67548852-67690626	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3359258	chr3:67589615-67828274	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv876922	chr3:67635506-67755257	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv428739	chr3:67656829-67730379	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67601800-67673000	Weak transcription	Fetal Heart	heart
2	chr3:67612400-67697200	Weak transcription	Hela-S3	cervix
3	chr3:67614000-67658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:67621800-67658000	Weak transcription	Thymus	Thymus
5	chr3:67624800-67658200	Weak transcription	Fetal Intestine Small	intestine
6	chr3:67629200-67675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:67629400-67658000	Weak transcription	Right Ventricle	heart
8	chr3:67631400-67700200	Weak transcription	K562	blood
9	chr3:67631800-67664600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:67639000-67662000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:67639200-67658600	Weak transcription	Colonic Mucosa	Colon
12	chr3:67640200-67678000	Weak transcription	Small Intestine	intestine
13	chr3:67640400-67658600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:67642800-67658400	Weak transcription	HSMMtube	muscle
15	chr3:67644600-67658600	Weak transcription	Esophagus	oesophagus
16	chr3:67646200-67667400	Weak transcription	Psoas Muscle	Psoas
17	chr3:67647600-67658800	Weak transcription	HepG2	liver
18	chr3:67649400-67658000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:67650000-67658200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:67651200-67658000	Weak transcription	Brain Anterior Caudate	brain
21	chr3:67651200-67664800	Weak transcription	Colon Smooth Muscle	Colon
22	chr3:67653400-67658000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:67653400-67658400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:67653400-67658600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:67653400-67660200	Strong transcription	HSMM	muscle
26	chr3:67653400-67662200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr3:67653400-67669800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr3:67653600-67658200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:67653600-67661600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:67653600-67664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:67653800-67659800	Strong transcription	HMEC	breast
32	chr3:67653800-67660400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:67653800-67671200	Weak transcription	Stomach Mucosa	stomach
34	chr3:67653800-67679600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:67654000-67658000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:67654000-67661600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr3:67654400-67661200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr3:67654400-67661400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr3:67654400-67661400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr3:67654600-67661600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:67654600-67661800	Strong transcription	Primary B cells from cord blood	blood
42	chr3:67654800-67657800	Genic enhancers	Primary T cells from cord blood	blood
43	chr3:67654800-67659800	Strong transcription	Fetal Kidney	kidney
44	chr3:67654800-67660200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:67654800-67660400	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr3:67654800-67661400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr3:67655000-67657800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr3:67655000-67657800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
49	chr3:67655000-67659800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr3:67655000-67660000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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