Variant report

Variant	rs6734214
Chromosome Location	chr2:48013752-48013753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48009604..48011785-chr2:48013652..48016498,2	K562	blood:
2	chr2:48008730..48016091-chr2:48023378..48031018,13	K562	blood:
3	chr2:48013018..48016361-chr2:48016765..48019577,4	K562	blood:
4	chr2:48011141..48015679-chr2:48023292..48025475,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235369	Chromatin interaction
ENSG00000116062	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3136273	1.00[AFR][1000 genomes]
rs3136323	1.00[AFR][1000 genomes]
rs3136325	1.00[AFR][1000 genomes]
rs3136327	1.00[AFR][1000 genomes]
rs3136328	1.00[AFR][1000 genomes]
rs6748363	1.00[AFR][1000 genomes]
rs7570945	1.00[AFR][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	nsv873999	chr2:47916074-48019485	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48011400-48015000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:48011600-48014200	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:48011600-48014200	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr2:48011800-48014400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:48011800-48023000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:48011800-48026200	Weak transcription	Stomach Mucosa	stomach
7	chr2:48012000-48014000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:48012000-48014400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:48012000-48014400	Genic enhancers	Fetal Thymus	thymus
10	chr2:48012000-48015000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:48012000-48015200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:48012000-48017600	Weak transcription	Fetal Kidney	kidney
13	chr2:48012000-48018000	Weak transcription	Psoas Muscle	Psoas
14	chr2:48012000-48018400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:48012000-48019200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:48012000-48022800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:48012000-48023000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:48012000-48023400	Weak transcription	HSMMtube	muscle
19	chr2:48012000-48024400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:48012000-48024600	Weak transcription	Aorta	Aorta
21	chr2:48012000-48024600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:48012000-48024800	Weak transcription	NHEK	skin
23	chr2:48012000-48026000	Weak transcription	Esophagus	oesophagus
24	chr2:48012000-48026000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:48012000-48026200	Weak transcription	Gastric	stomach
26	chr2:48012200-48014400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:48012200-48014400	Enhancers	Brain Hippocampus Middle	brain
28	chr2:48012200-48014800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:48012200-48017400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:48012200-48017400	Weak transcription	Thymus	Thymus
31	chr2:48012200-48018200	Weak transcription	Spleen	Spleen
32	chr2:48012200-48019800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:48012200-48021200	Weak transcription	HMEC	breast
34	chr2:48012200-48021600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:48012200-48021600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:48012200-48022000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:48012200-48022200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:48012200-48022200	Weak transcription	Osteobl	bone
39	chr2:48012200-48023000	Weak transcription	NHLF	lung
40	chr2:48012200-48023600	Weak transcription	Left Ventricle	heart
41	chr2:48012200-48024600	Weak transcription	Right Ventricle	heart
42	chr2:48012200-48026000	Weak transcription	Small Intestine	intestine
43	chr2:48012200-48030000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:48012400-48013800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:48012400-48013800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:48012400-48014000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:48012400-48014600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:48012400-48016800	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:48012400-48018000	Weak transcription	Brain Germinal Matrix	brain
50	chr2:48012400-48018200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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