Variant report

Variant	rs609632
Chromosome Location	chr6:149549573-149549574
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149351744..149354511-chr6:149547330..149549767,2	MCF-7	breast:
2	chr6:149545459..149547626-chr6:149547997..149549609,2	K562	blood:
3	chr6:149548430..149549948-chr6:149553573..149556113,2	MCF-7	breast:
4	chr6:149547500..149550103-chr6:149637662..149639707,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236591	Chromatin interaction
ENSG00000055208	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs531486	1.00[LWK][hapmap]
rs72997892	1.00[ASN][1000 genomes]
rs72997896	1.00[ASN][1000 genomes]
rs7776165	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs609632	ULBP1	cis	cerebellum	SCAN
rs609632	MTHFD1L	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149540400-149551600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:149542200-149560600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:149544400-149549600	Enhancers	Fetal Lung	lung
4	chr6:149545400-149550400	Weak transcription	Right Ventricle	heart
5	chr6:149545400-149553000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:149545600-149549600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:149545800-149551600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:149545800-149553000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:149545800-149557800	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:149545800-149560200	Weak transcription	Right Atrium	heart
11	chr6:149546000-149551600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:149546800-149556200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:149547600-149549600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:149547600-149550000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:149548000-149551400	Weak transcription	Adipose Nuclei	Adipose
16	chr6:149548600-149550000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:149548600-149550200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:149548600-149551000	Enhancers	Brain Germinal Matrix	brain
19	chr6:149548800-149551000	Enhancers	Fetal Brain Female	brain
20	chr6:149549000-149550200	Enhancers	Fetal Heart	heart
21	chr6:149549000-149550400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr6:149549000-149551000	Enhancers	Fetal Brain Male	brain
23	chr6:149549200-149549600	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:149549200-149552400	Enhancers	Ovary	ovary
25	chr6:149549400-149549600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:149549400-149549600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:149549400-149549600	Active TSS	Brain Anterior Caudate	brain
28	chr6:149549400-149549600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr6:149549400-149549600	Enhancers	Fetal Stomach	stomach
30	chr6:149549400-149549600	Enhancers	Fetal Thymus	thymus
31	chr6:149549400-149549800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:149549400-149549800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:149549400-149549800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr6:149549400-149549800	Enhancers	HSMM	muscle
35	chr6:149549400-149550000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:149549400-149550000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:149549400-149550000	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr6:149549400-149550200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr6:149549400-149550200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:149549400-149550200	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr6:149549400-149550200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:149549400-149550400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:149549400-149550400	Flanking Active TSS	Brain Substantia Nigra	brain

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