Variant report

Variant	rs41265172
Chromosome Location	chr1:149913562-149913563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:149913501-149913575	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149815719..149822339-chr1:149907112..149913890,13	MCF-7	breast:
2	chr1:149911189..149913982-chr1:150022742..150024271,2	MCF-7	breast:
3	chr1:149911144..149914271-chr1:149919148..149922451,3	K562	blood:
4	chr1:149911926..149914059-chr1:149920951..149923919,2	K562	blood:
5	chr1:149908339..149915829-chr1:150035449..150039990,12	MCF-7	breast:
6	chr1:149912344..149915239-chr1:149936515..149940738,3	MCF-7	breast:
7	chr1:149913519..149915575-chr1:149932822..149935267,2	MCF-7	breast:
8	chr1:149908458..149914088-chr1:149980717..149984285,8	MCF-7	breast:
9	chr1:149907171..149915966-chr1:150036158..150043011,15	MCF-7	breast:
10	chr1:149912197..149914879-chr1:150040016..150042189,2	MCF-7	breast:
11	chr1:149912473..149914603-chr1:150054218..150057037,2	MCF-7	breast:
12	chr1:149782695..149785268-chr1:149912771..149914433,2	K562	blood:

No data

Variant related genes	Relation type
MTMR11	TF binding region
ENSG00000242663	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000272993	Chromatin interaction
ENSG00000183598	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000203814	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11205037	1.00[ASN][1000 genomes]
rs1260246	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55909843	1.00[ASN][1000 genomes]
rs59420759	1.00[ASN][1000 genomes]
rs67567469	1.00[ASN][1000 genomes]
rs72708144	1.00[ASN][1000 genomes]
rs7531664	1.00[ASN][1000 genomes]

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	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149909200-149915400	Weak transcription	Brain Germinal Matrix	brain
2	chr1:149909200-149916400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:149909400-149915000	Weak transcription	Fetal Brain Female	brain
4	chr1:149909400-149947000	Weak transcription	Fetal Brain Male	brain
5	chr1:149909600-149916400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:149909800-149913800	Weak transcription	Fetal Lung	lung
7	chr1:149909800-149916600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:149910000-149913800	Weak transcription	Fetal Kidney	kidney
9	chr1:149910000-149914400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:149910000-149934200	Weak transcription	Primary T cells from cord blood	blood
11	chr1:149910200-149914800	Weak transcription	Thymus	Thymus
12	chr1:149910200-149914800	Weak transcription	Spleen	Spleen
13	chr1:149910200-149915800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:149910200-149915800	Weak transcription	Esophagus	oesophagus
15	chr1:149910200-149929800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:149910600-149914000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:149911000-149916000	Weak transcription	Psoas Muscle	Psoas
18	chr1:149911400-149913800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:149911400-149913800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:149911400-149914000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:149911400-149914400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:149911400-149914600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:149911400-149914600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:149911400-149915000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:149911400-149915200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:149911400-149915400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr1:149911400-149915400	Weak transcription	Right Ventricle	heart
28	chr1:149911400-149915600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:149911400-149915600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:149911400-149915600	Weak transcription	NHLF	lung
31	chr1:149911400-149915800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:149911400-149916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:149911400-149916200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:149911400-149917200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:149911400-149933800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:149911600-149913800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:149911600-149913800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:149911600-149913800	Weak transcription	Brain Substantia Nigra	brain
39	chr1:149911600-149914000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:149911600-149914400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:149911600-149914800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:149911600-149914800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:149911600-149914800	Weak transcription	Fetal Stomach	stomach
44	chr1:149911600-149914800	Weak transcription	HSMMtube	muscle
45	chr1:149911600-149915400	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:149911600-149915400	Weak transcription	GM12878-XiMat	blood
47	chr1:149911600-149915600	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:149911600-149915600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:149911600-149915600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr1:149911600-149915800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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