Variant report

Variant	rs34655672
Chromosome Location	chr3:47198618-47198619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47189860..47191745-chr3:47198153..47199687,2	K562	blood:
2	chr3:47184671..47186867-chr3:47196509..47199504,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13060272	1.00[AMR][1000 genomes]
rs13060989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13061438	1.00[AMR][1000 genomes]
rs35153818	1.00[AMR][1000 genomes]
rs35954846	1.00[AMR][1000 genomes]
rs71328911	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv590210	chr3:47126543-47214122	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv590211	chr3:47189485-47256057	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47166000-47200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:47166000-47201200	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:47166000-47204600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:47166200-47200600	Weak transcription	Hela-S3	cervix
5	chr3:47166600-47204200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:47167400-47202400	Weak transcription	HSMM	muscle
7	chr3:47175800-47200400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr3:47182600-47200800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:47183600-47200800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:47183600-47202200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:47183800-47202200	Weak transcription	NHEK	skin
12	chr3:47183800-47203000	Weak transcription	Colonic Mucosa	Colon
13	chr3:47184600-47202200	Weak transcription	Esophagus	oesophagus
14	chr3:47184800-47199600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr3:47184800-47199800	Weak transcription	Fetal Intestine Small	intestine
16	chr3:47188400-47200800	Weak transcription	Fetal Stomach	stomach
17	chr3:47188600-47202000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:47190000-47200400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr3:47191200-47200600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:47191200-47202800	Weak transcription	HMEC	breast
21	chr3:47191400-47201000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:47192200-47200400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:47192200-47202000	Weak transcription	Fetal Lung	lung
24	chr3:47194000-47200800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:47194200-47200400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:47194400-47200600	Weak transcription	Fetal Heart	heart
27	chr3:47194400-47200800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr3:47194400-47203600	Weak transcription	NH-A	brain
29	chr3:47194600-47199600	Weak transcription	Brain Angular Gyrus	brain
30	chr3:47194600-47199800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:47194600-47199800	Weak transcription	Fetal Thymus	thymus
32	chr3:47194600-47200400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:47194600-47200400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr3:47194600-47200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:47194600-47200800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:47195000-47200800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:47195200-47200400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:47195200-47200600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:47195200-47200600	Weak transcription	Dnd41	blood
40	chr3:47195600-47200800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:47196400-47203600	Enhancers	Liver	Liver
42	chr3:47196600-47203600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr3:47196800-47199000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr3:47197000-47198800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr3:47197000-47198800	Enhancers	Gastric	stomach
46	chr3:47197000-47198800	Enhancers	Psoas Muscle	Psoas
47	chr3:47197000-47203600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr3:47197000-47203600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:47197000-47203800	Enhancers	Primary B cells from peripheral blood	blood
50	chr3:47197000-47203800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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