Variant report

Variant	rs6805703
Chromosome Location	chr3:99572044-99572045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:99571804-99576711	HepG2	liver:	n/a	n/a
2	POLR2A	chr3:99571752-99572142	HepG2	liver:	n/a	n/a
3	GATA1	chr3:99571664-99572236	PBDE	blood:	n/a	chr3:99571947-99571956 chr3:99571920-99571928 chr3:99571944-99571960 chr3:99571942-99571963
4	POLR2A	chr3:99572005-99572072	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:99571584..99573287-chr3:99980510..99983253,2	K562	blood:
2	chr3:99570458..99572667-chr3:99573247..99575806,2	MCF-7	breast:
3	chr3:99566203..99568540-chr3:99570392..99572106,2	MCF-7	breast:
4	chr3:99564230..99568192-chr3:99570896..99574736,4	K562	blood:

Variant related genes	Relation type
FILIP1L	TF binding region
ENSG00000168386	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16841650	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs16841653	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs16841712	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs17313676	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs17314245	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs17314280	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs17338576	0.89[AFR][1000 genomes]
rs17392822	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs17393080	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs17778804	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs2035400	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs41444055	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6762809	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6772519	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6784150	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6787184	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6791426	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6807615	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6808420	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7611313	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs7612083	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7612089	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7619738	1.00[YRI][hapmap]
rs7625813	1.00[AFR][1000 genomes]
rs7626214	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7626310	1.00[ASW][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7646221	0.89[AFR][1000 genomes]
rs768527	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs9756455	1.00[YRI][hapmap]
rs9824017	1.00[YRI][hapmap]
rs9843372	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99537200-99594400	Weak transcription	Esophagus	oesophagus
2	chr3:99538200-99584600	Weak transcription	Primary T cells from cord blood	blood
3	chr3:99557000-99573600	Weak transcription	Small Intestine	intestine
4	chr3:99559000-99578000	Weak transcription	HMEC	breast
5	chr3:99562200-99573200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:99562200-99578000	Weak transcription	NHEK	skin
7	chr3:99562600-99578200	Weak transcription	Fetal Kidney	kidney
8	chr3:99562800-99580200	Weak transcription	Gastric	stomach
9	chr3:99563000-99575000	Weak transcription	Placenta	Placenta
10	chr3:99563000-99577600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr3:99563200-99572200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:99563200-99574800	Weak transcription	Psoas Muscle	Psoas
13	chr3:99563200-99593600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:99563800-99574800	Weak transcription	Pancreas	Pancrea
15	chr3:99564200-99577600	Weak transcription	Primary B cells from cord blood	blood
16	chr3:99565200-99585000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:99565400-99577600	Weak transcription	Fetal Heart	heart
18	chr3:99565600-99573600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:99565600-99573600	Weak transcription	Fetal Lung	lung
20	chr3:99565600-99574800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:99565600-99574800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:99565600-99584800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:99565600-99589400	Weak transcription	K562	blood
24	chr3:99566000-99573200	Weak transcription	Liver	Liver
25	chr3:99566000-99578400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:99567600-99573600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:99567600-99576200	Weak transcription	Stomach Mucosa	stomach
28	chr3:99567800-99572800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr3:99567800-99573400	Strong transcription	HepG2	liver
30	chr3:99567800-99581600	Weak transcription	Spleen	Spleen
31	chr3:99568000-99578600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr3:99568000-99580000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:99568400-99572600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:99568400-99575000	Weak transcription	GM12878-XiMat	blood
35	chr3:99568400-99576000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:99568600-99577600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:99568800-99574800	Weak transcription	NHDF-Ad	bronchial
38	chr3:99569000-99589600	Weak transcription	Colonic Mucosa	Colon
39	chr3:99569400-99572200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:99569800-99572800	Weak transcription	HSMMtube	muscle
41	chr3:99569800-99573400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr3:99569800-99573400	Weak transcription	Fetal Intestine Small	intestine
43	chr3:99569800-99575000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:99569800-99579200	Weak transcription	Right Ventricle	heart
45	chr3:99569800-99579400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:99569800-99580200	Weak transcription	Lung	lung
47	chr3:99570000-99572800	Weak transcription	Adipose Nuclei	Adipose
48	chr3:99570000-99573200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:99570000-99575200	Weak transcription	NHLF	lung
50	chr3:99570000-99575600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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