Variant report

Variant	rs6750988
Chromosome Location	chr2:97544089-97544090
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
2	chr2:97541452..97544120-chr2:97621579..97625010,4	K562	blood:
3	chr2:97542354..97544469-chr2:97571292..97573499,2	K562	blood:

Variant related genes	Relation type
ENSG00000252845	Chromatin interaction
ENSG00000168754	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11885652	0.82[EUR][1000 genomes]
rs12464868	0.81[EUR][1000 genomes]
rs12473528	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13430237	0.85[ASN][1000 genomes]
rs2314652	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2314653	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4907254	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58446419	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7581764	0.82[EUR][1000 genomes]

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	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97536800-97546200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:97536800-97551800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:97536800-97555200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:97537800-97544200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:97538400-97544400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:97538400-97547400	Enhancers	Spleen	Spleen
7	chr2:97538600-97544800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:97538600-97545000	Enhancers	HSMMtube	muscle
9	chr2:97539400-97546800	Weak transcription	Lung	lung
10	chr2:97539600-97544600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:97540000-97548000	Weak transcription	Right Atrium	heart
12	chr2:97540200-97549800	Weak transcription	Liver	Liver
13	chr2:97540600-97544600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:97540600-97544600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:97540800-97552200	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:97541000-97546800	Weak transcription	Right Ventricle	heart
17	chr2:97541000-97547400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:97541800-97546800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:97541800-97547000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:97541800-97547600	Weak transcription	Fetal Kidney	kidney
21	chr2:97542000-97544200	Weak transcription	Fetal Brain Female	brain
22	chr2:97542200-97544800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:97542200-97545000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:97542200-97545200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:97542200-97553000	Weak transcription	Fetal Intestine Small	intestine
26	chr2:97542400-97546600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:97542400-97547200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:97542600-97546800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:97542600-97546800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:97542800-97546800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:97542800-97548000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:97542800-97557400	Enhancers	Placenta	Placenta
33	chr2:97543000-97544400	Enhancers	Fetal Stomach	stomach
34	chr2:97543000-97545400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:97543000-97545600	Weak transcription	Fetal Thymus	thymus
36	chr2:97543000-97547000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:97543200-97545000	Enhancers	Brain Hippocampus Middle	brain
38	chr2:97543200-97546600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:97543200-97546800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:97543400-97544400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:97543400-97544400	Enhancers	Esophagus	oesophagus
42	chr2:97543400-97544800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:97543600-97544200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr2:97543600-97544200	Flanking Active TSS	HSMM	muscle
45	chr2:97543600-97544800	Enhancers	Brain Anterior Caudate	brain
46	chr2:97543600-97545600	Enhancers	Fetal Brain Male	brain
47	chr2:97543800-97544200	Weak transcription	Brain Germinal Matrix	brain
48	chr2:97543800-97544200	Enhancers	Fetal Muscle Leg	muscle
49	chr2:97543800-97544600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr2:97543800-97544600	Enhancers	K562	blood

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