Variant report

Variant	rs34327950
Chromosome Location	chr15:44778639-44778640
allele	C/T
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	BATF	chr15:44778621-44778919	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44776722..44779562-chr15:44780236..44783124,2	K562	blood:

Variant related genes	Relation type
CTDSPL2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11635596	1.00[LWK][hapmap]
rs12437493	1.00[LWK][hapmap]
rs28409610	1.00[LWK][hapmap]
rs28566474	1.00[LWK][hapmap]
rs35763857	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44733800-44779000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr15:44735600-44779400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr15:44740600-44779000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:44740600-44779000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:44740600-44795600	Weak transcription	Esophagus	oesophagus
7	chr15:44740600-44824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:44740800-44779000	Weak transcription	Aorta	Aorta
9	chr15:44740800-44779000	Weak transcription	Spleen	Spleen
10	chr15:44741000-44783800	Weak transcription	Right Ventricle	heart
11	chr15:44750000-44827400	Weak transcription	Pancreas	Pancrea
12	chr15:44750200-44779000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:44750200-44828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:44750400-44782800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr15:44750600-44779000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:44750600-44781400	Weak transcription	A549	lung
17	chr15:44751000-44795400	Weak transcription	Stomach Mucosa	stomach
18	chr15:44754600-44779600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:44754600-44781400	Weak transcription	Brain Substantia Nigra	brain
20	chr15:44754600-44816200	Weak transcription	Brain Angular Gyrus	brain
21	chr15:44754800-44779400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr15:44756800-44779400	Weak transcription	K562	blood
23	chr15:44757000-44779400	Weak transcription	Brain Hippocampus Middle	brain
24	chr15:44757000-44781400	Weak transcription	HSMMtube	muscle
25	chr15:44757000-44827400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr15:44757600-44779000	Weak transcription	Placenta	Placenta
27	chr15:44757800-44779600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr15:44761200-44781400	Weak transcription	NHLF	lung
29	chr15:44761400-44778800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr15:44761400-44778800	Weak transcription	NH-A	brain
31	chr15:44761400-44779000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:44761400-44779000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:44761400-44779000	Weak transcription	HUVEC	blood vessel
34	chr15:44761400-44781400	Weak transcription	HMEC	breast
35	chr15:44761400-44781400	Weak transcription	NHDF-Ad	bronchial
36	chr15:44761400-44781400	Weak transcription	Osteobl	bone
37	chr15:44761600-44779400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:44761600-44781000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:44761600-44781400	Weak transcription	NHEK	skin
40	chr15:44761600-44789800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr15:44763600-44779000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr15:44764000-44778800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr15:44764000-44779400	Weak transcription	Brain Germinal Matrix	brain
44	chr15:44764200-44779000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr15:44764200-44779400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:44764600-44779000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:44764600-44779000	Weak transcription	Fetal Kidney	kidney
48	chr15:44764600-44779200	Weak transcription	Fetal Brain Female	brain
49	chr15:44764600-44779600	Weak transcription	Brain Anterior Caudate	brain
50	chr15:44765000-44781000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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