Variant report

Variant	rs6791426
Chromosome Location	chr3:99649042-99649043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99594266..99595861-chr3:99647870..99649682,2	K562	blood:
2	chr3:99638906..99644679-chr3:99646570..99651799,7	K562	blood:
3	chr3:99639208..99643794-chr3:99646040..99649673,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168386	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs16841712	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs17313676	1.00[ASW][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17314245	1.00[ASW][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17314280	1.00[ASW][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17314998	1.00[ASW][hapmap]
rs17392822	1.00[ASW][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17393080	1.00[ASW][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17778804	1.00[ASW][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs2035400	0.83[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs41444055	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs41477051	1.00[AFR][1000 genomes]
rs6762809	1.00[ASW][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs6762871	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs6764470	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6765822	1.00[AFR][1000 genomes]
rs6772519	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6778756	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6781780	1.00[ASW][hapmap]
rs6784150	1.00[ASW][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs6787184	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6788807	1.00[YRI][hapmap]
rs6789840	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6790187	0.89[AFR][1000 genomes]
rs6794365	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6801514	1.00[YRI][hapmap]
rs6805703	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6805834	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6807137	1.00[YRI][hapmap]
rs6807615	1.00[ASW][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs6808420	1.00[YRI][hapmap]
rs7611313	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7612083	1.00[YRI][hapmap]
rs7612089	1.00[YRI][hapmap]
rs7619738	1.00[YRI][hapmap]
rs7626214	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs7626310	1.00[ASW][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs7639304	0.89[AFR][1000 genomes]
rs766777	0.89[AFR][1000 genomes]
rs768527	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9756455	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99640400-99656000	Weak transcription	GM12878-XiMat	blood
2	chr3:99640400-99656600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:99640400-99656800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:99641400-99654200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:99642200-99654000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:99644000-99649800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:99644800-99649600	Weak transcription	Pancreas	Pancrea
8	chr3:99644800-99653800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:99644800-99663200	Weak transcription	Esophagus	oesophagus
10	chr3:99645200-99653800	Weak transcription	NHLF	lung
11	chr3:99645200-99654200	Weak transcription	Small Intestine	intestine
12	chr3:99645200-99656800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:99645400-99653800	Weak transcription	NHDF-Ad	bronchial
14	chr3:99646000-99653400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:99646000-99656400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:99646400-99649800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:99646400-99649800	Enhancers	Right Atrium	heart
18	chr3:99646400-99650000	Enhancers	Fetal Stomach	stomach
19	chr3:99646600-99649600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:99646600-99649600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:99646600-99649800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:99646600-99649800	Enhancers	Fetal Muscle Leg	muscle
23	chr3:99646600-99650000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:99647000-99649800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:99647200-99649800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:99647400-99649400	Weak transcription	Fetal Intestine Large	intestine
27	chr3:99647400-99650000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr3:99647400-99650000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr3:99647400-99650400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:99647400-99650600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:99647400-99650600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr3:99647400-99650600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:99647600-99650600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:99647600-99650600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:99647800-99650600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:99648000-99649600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:99648000-99649800	Enhancers	Left Ventricle	heart
38	chr3:99648000-99649800	Enhancers	Right Ventricle	heart
39	chr3:99648200-99649200	Enhancers	Osteobl	bone
40	chr3:99648200-99649400	Enhancers	Brain Anterior Caudate	brain
41	chr3:99648200-99649600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:99648200-99649800	Enhancers	HMEC	breast
43	chr3:99648200-99650000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr3:99648400-99649400	Enhancers	Brain Angular Gyrus	brain
45	chr3:99648400-99649400	Enhancers	Brain Hippocampus Middle	brain
46	chr3:99648400-99649400	Enhancers	Fetal Lung	lung
47	chr3:99648400-99649400	Enhancers	HSMM	muscle
48	chr3:99648400-99649400	Enhancers	HSMMtube	muscle
49	chr3:99648400-99649600	Enhancers	Brain Cingulate Gyrus	brain
50	chr3:99648400-99649600	Enhancers	Duodenum Smooth Muscle	Duodenum

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