Variant report

Variant	rs6757714
Chromosome Location	chr2:48607259-48607260
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	chr2:48604176..48606531-chr2:48606806..48608312,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10180074	1.00[EUR][1000 genomes]
rs13394813	1.00[EUR][1000 genomes]
rs17037291	0.87[YRI][hapmap]
rs28439229	0.90[ASW][hapmap];0.87[YRI][hapmap]
rs28581888	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4438532	0.82[YRI][hapmap]
rs4606978	0.82[YRI][hapmap]
rs56739727	1.00[EUR][1000 genomes]
rs57960206	1.00[EUR][1000 genomes]
rs58619347	1.00[EUR][1000 genomes]
rs59217824	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60519998	1.00[EUR][1000 genomes]
rs61592994	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6545031	0.90[ASW][hapmap];0.87[YRI][hapmap]
rs6545033	0.87[YRI][hapmap]
rs72889649	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889654	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7563625	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv874002	chr2:48547751-48610367	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874003	chr2:48570509-48619869	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48581400-48608000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:48589400-48607400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:48590000-48607400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:48595200-48609200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:48597400-48608000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:48597800-48609400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:48598600-48607400	Weak transcription	Fetal Brain Female	brain
8	chr2:48598600-48609000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:48598600-48612800	Weak transcription	Fetal Stomach	stomach
10	chr2:48599400-48608000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:48599600-48607800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:48600000-48607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:48600000-48607400	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:48600000-48608000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:48600400-48607400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:48600400-48607400	Strong transcription	A549	lung
17	chr2:48600400-48607600	Strong transcription	GM12878-XiMat	blood
18	chr2:48600600-48607800	Strong transcription	Primary hematopoietic stem cells	blood
19	chr2:48600800-48607400	Strong transcription	Liver	Liver
20	chr2:48600800-48607600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:48602400-48608200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:48602600-48607600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:48602600-48608400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:48602600-48608600	Weak transcription	Fetal Lung	lung
25	chr2:48602600-48608800	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:48602600-48608800	Weak transcription	NH-A	brain
27	chr2:48602600-48609200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:48602600-48609400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:48602600-48612000	Weak transcription	Lung	lung
30	chr2:48602600-48612800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:48602600-48613400	Weak transcription	Left Ventricle	heart
32	chr2:48602800-48607800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:48602800-48608600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:48602800-48608600	Weak transcription	Fetal Kidney	kidney
35	chr2:48602800-48609200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:48602800-48609200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:48602800-48610000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:48602800-48610000	Weak transcription	HSMMtube	muscle
39	chr2:48602800-48612800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:48603000-48607400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:48603600-48608600	Weak transcription	K562	blood
42	chr2:48603600-48608800	Weak transcription	Fetal Intestine Large	intestine
43	chr2:48603600-48609000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:48603800-48610200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:48603800-48614800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:48604000-48607800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:48604000-48609000	Weak transcription	NHLF	lung
48	chr2:48604000-48609200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:48604200-48608600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:48604600-48607800	Weak transcription	Rectal Mucosa Donor 31	rectum

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